R3GS4K last accessed: 2022-11-04

dbGAP
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

dbgap
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

Other names: dbGaP, NCBI dbGaP, DataBase of Genotypes And Phenotypes, genotypes and phenotypes, dbGAP, dbgap

The Database of Genotypes and Phenotypes (dbGaP) archives and distributes the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

Webpage:

https://www.ncbi.nlm.nih.gov/gap/

Licence:

Name: NCBI Data Policies and Disclaimer
URL: http://www.ncbi.nlm.nih.gov/home/about/policies.shtml

Publications:

Publications
More detailed information about this field from each metasource.

The NCBI dbGaP database of genotypes and phenotypes
PMID: 17898773
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

NCBI's Database of Genotypes and Phenotypes: dbGaP
PMID: 24297256
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

http://dx.doi.org/10.1093/nar/gkt1211
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

The NCBI dbGaP database of genotypes and phenotypes PubMed citations: 586.

586 articles citing: The NCBI dbGaP database of genotypes and phenotypes

Correlation Analysis of Variables From the Atherosclerosis Risk in Communities Study. PMID:35899108
Transcriptional regulatory networks of circulating immune cells in type 1 diabetes: A community knowledgebase. PMID:35832893
Systematic indication extension for drugs using patient stratification insights generated by combinatorial analytics. PMID:35755863
Single nucleotide polymorphisms in FOXP1 and RORA of the lymphocyte activation-related pathway affect survival of lung cancer patients. PMID:35693292
Genotype error biases trio-based estimates of haplotype phase accuracy. PMID:35659928
Associations of genetic risk, BMI trajectories, and the risk of non-small cell lung cancer: a population-based cohort study. PMID:35658861
Opportunities and challenges for the use of common controls in sequencing studies. PMID:35581355
Metabolomic profiling of matured coconut water during post-harvest storage revealed discrimination and distinct changes in metabolites. PMID:35548195
Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes. PMID:35512711
Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases. PMID:35501679
Genome interpretation using in silico predictors of variant impact. PMID:35488922
PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery. PMID:35475145
Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck. PMID:35404482
Linking complex disease and exposure data-insights from an environmental and occupational health study. PMID:35347232
A hierarchical Bayesian entry time realignment method to study the long-term natural history of diseases. PMID:35318383
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders. PMID:35304488
GTQC: Automated Genotyping Array Quality Control and Report. PMID:35300047
The Biomedical Research Hub: a federated platform for patient research data. PMID:35289369
Genetic variants associated mRNA stability in lung. PMID:35272635
Sociotechnical safeguards for genomic data privacy. PMID:35246669
Genetic variants in choline metabolism pathway are associated with the risk of bladder cancer in the Chinese population. PMID:35237847
Sleep and circadian informatics data harmonization: a workshop report from the Sleep Research Society and Sleep Research Network. PMID:35030631
Apropos Data Sharing: Abandon the Distrust and Embrace the Opportunity. PMID:34941450
Genome sequencing as a first-line diagnostic test for hospitalized infants. PMID:34930662
TiMEG: an integrative statistical method for partially missing multi-omics data. PMID:34911979
Multi-task learning based structured sparse canonical correlation analysis for brain imaging genetics. PMID:34871929
Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach. PMID:34844060
Discovery of genomic regions associated with resistance to late wilt disease caused by Harpophora maydis (Samra, Sabet and Hing) in maize (Zea mays L.). PMID:34841470
Using Summary Statistics to Model Multiplicative Combinations of Initially Analyzed Phenotypes With a Flexible Choice of Covariates. PMID:34712269
Local Progression Kinetics of Geographic Atrophy Depends Upon the Border Location. PMID:34709347
Genetic Variants of CLEC4E and BIRC3 in Damage-Associated Molecular Patterns-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:34692492
Ethics of DNA research on human remains: five globally applicable guidelines. PMID:34671160
Mediation model with a categorical exposure and a censored mediator with application to a genetic study. PMID:34637449
An overview of machine learning methods for monotherapy drug response prediction. PMID:34619752
A data harmonization pipeline to leverage external controls and boost power in GWAS. PMID:34508597
Associations of systemic health and medication use with the enlargement rate of geographic atrophy in age-related macular degeneration. PMID:34489337
Fast two-stage phasing of large-scale sequence data. PMID:34478634
Whole-Genome Differentially Hydroxymethylated DNA Regions among Twins Discordant for Cardiovascular Death. PMID:34440357
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. PMID:34395068
Forming Consensus To Advance Urobiome Research. PMID:34282932
Neptune: an environment for the delivery of genomic medicine. PMID:34257418
Genetic variants of DOCK2, EPHB1 and VAV2 in the natural killer cell-related pathway are associated with non-small cell lung cancer survival. PMID:34094683
Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects. PMID:34071175
Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic phase-related pathway are associated with nonsmall cell lung cancer survival. PMID:34058013
Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer. PMID:34018994
Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example. PMID:33946982
A fast wavelet-based functional association analysis replicates several susceptibility loci for birth weight in a Norwegian population. PMID:33932983
NHLBI-CMREF Workshop Report on Pulmonary Vascular Disease Classification: JACC State-of-the-Art Review. PMID:33888254
A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program. PMID:33861317
Distinct clinical phenotypes for Crohn's disease derived from patient surveys. PMID:33836648
Human microbiome privacy risks associated with summary statistics. PMID:33798253
Predicting Lyme Disease From Patients' Peripheral Blood Mononuclear Cells Profiled With RNA-Sequencing. PMID:33763080
Cardiovascular informatics: building a bridge to data harmony. PMID:33751044
Geographic atrophy severity and mortality in age-related macular degeneration. PMID:33742280
COVID-19 patient transcriptomic and genomic profiling reveals comorbidity interactions with psychiatric disorders. PMID:33723208
Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. PMID:33651148
Uniform genomic data analysis in the NCI Genomic Data Commons. PMID:33619257
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
NLRC5/CITA expression correlates with efficient response to checkpoint blockade immunotherapy. PMID:33547395
Synthetic lethality across normal tissues is strongly associated with cancer risk, onset, and tumor suppressor specificity. PMID:33523837
Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease. PMID:33452914
Artificial Intelligence in Drug Discovery: A Comprehensive Review of Data-driven and Machine Learning Approaches. PMID:33437151
Potentially functional variants of HBEGF and ITPR3 in GnRH signaling pathway genes predict survival of non-small cell lung cancer patients. PMID:33400994
Natural history of central sparing in geographic atrophy secondary to non-exudative age-related macular degeneration. PMID:33361441
Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities. PMID:33279989
What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? PMID:33256133
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. PMID:33193618
Systematic integrated analysis of genetic and epigenetic variation in diabetic kidney disease. PMID:33144501
REDIportal: millions of novel A-to-I RNA editing events from thousands of RNAseq experiments. PMID:33104797
Evaluating the precision of EBF1 SNP x stress interaction association: sex, race, and age differences in a big harmonized data set of 28,026 participants. PMID:33077726
RMVar: an updated database of functional variants involved in RNA modifications. PMID:33021671
Reconstruction of lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveals functional lncRNAs in skin cutaneous melanoma. PMID:32993558
Causal inference in genetic trio studies. PMID:32948695
Genetic variants of BIRC3 and NRG1 in the NLRP3 inflammasome pathway are associated with non-small cell lung cancer survival. PMID:32905523
Novel genetic variants of SYK and ITGA1 related lymphangiogenesis signaling pathway predict non-small cell lung cancer survival. PMID:32905494
A comparison of statistical and machine learning methods for creating national daily maps of ambient PM2.5 concentration. PMID:32863727
The archives are half-empty: an assessment of the availability of microbial community sequencing data. PMID:32859925
Relations between plasma microRNAs, echocardiographic markers of atrial remodeling, and atrial fibrillation: Data from the Framingham Offspring study. PMID:32813736
FANCY: fast estimation of privacy risk in functional genomics data. PMID:32726397
Responsible, practical genomic data sharing that accelerates research. PMID:32694666
Using blockchain to log genome dataset access: efficient storage and query. PMID:32693796
Novel genetic variants in genes of the Fc gamma receptor-mediated phagocytosis pathway predict non-small cell lung cancer survival. PMID:32676321
Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival. PMID:32659474
Novel genetic variants of KIR3DL2 and PVR involved in immunoregulatory interactions are associated with non-small cell lung cancer survival. PMID:32642289
Oncogenic Gene-Expression Programs in Leiomyosarcoma and Characterization of Conventional, Inflammatory, and Uterogenic Subtypes. PMID:32518213
Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. PMID:32493705
A tissue level atlas of the healthy human virome. PMID:32493363
Detecting transcriptomic structural variants in heterogeneous contexts via the Multiple Compatible Arrangements Problem. PMID:32467720
A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck. PMID:32276964
GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets. PMID:32249310
Comprehensive functional annotation of susceptibility variants associated with asthma. PMID:32240371
APOB Genotypes and CDH13 Haplotypes in the Cholesterol-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:32238407
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
Pathway-guided analysis identifies Myc-dependent alternative pre-mRNA splicing in aggressive prostate cancers. PMID:32086391
Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer. PMID:32072637
A census of pathway maps in cancer systems biology. PMID:32066900
Dairy Intake in 2 American Adult Cohorts Associates with Novel and Known Targeted and Nontargeted Circulating Metabolites. PMID:32055836
Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies. PMID:32045423
Resolution-based spectral clustering for brain parcellation using functional MRI. PMID:32035090
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. PMID:31891604
Statistical methods for testing X chromosome variant associations: application to sex-specific characteristics of bipolar disorder. PMID:31818333
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. PMID:31784483
Novel genetic variants in HDAC2 and PPARGC1A of the CREB-binding protein pathway predict survival of non-small-cell lung cancer. PMID:31713888
Systolic Blood Pressure and Socioeconomic Status in a large multi-study population. PMID:31650001
Novel genetic variants in KIF16B and NEDD4L in the endosome-related genes are associated with nonsmall cell lung cancer survival. PMID:31618441
Single nucleotide polymorphisms in piRNA-pathway genes: an insight into genetic determinants of human diseases. PMID:31612310
RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA. PMID:31548405
dbgap2x: an R package to explore and extract data from the database of Genotypes and Phenotypes (dbGaP). PMID:31504194
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. PMID:31444360
Perspectives on Data Analysis in Metabolomics: Points of Agreement and Disagreement from the 2018 ASMS Fall Workshop. PMID:31440979
Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. PMID:31435991
Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. PMID:31393916
Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer. PMID:31371054
Genetic determinants of beverage consumption: Implications for nutrition and health. PMID:31351524
iFunMed: Integrative functional mediation analysis of GWAS and eQTL studies. PMID:31328826
Cross-population analysis for functional characterization of type II diabetes variants. PMID:31216985
Presence of recombination hotspots throughout SLC6A3. PMID:31185047
Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy. PMID:31169925
GRAF-pop: A Fast Distance-Based Method To Infer Subject Ancestry from Multiple Genotype Datasets Without Principal Components Analysis. PMID:31151998
Age-Related Macular Degeneration and Mortality in the Age-Related Eye Disease Study (AREDS): The Effect of Sex and Time. PMID:31047394
Implementing the National Heart, Lung, and Blood Institute's Strategic Vision in the Division of Cardiovascular Sciences. PMID:31031412
Aquaporin Channels in the Heart-Physiology and Pathophysiology. PMID:31027200
Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. PMID:30989732
exRNA Atlas Analysis Reveals Distinct Extracellular RNA Cargo Types and Their Carriers Present across Human Biofluids. PMID:30951672
Genome-Wide Association Study in Irradiated Childhood Cancer Survivors Identifies HTR2A for Subsequent Basal Cell Carcinoma. PMID:30910758
The Transcription Factor ERG Regulates Super-Enhancers Associated With an Endothelial-Specific Gene Expression Program. PMID:30892142
Association of Circulating Tissue Inhibitor of Metalloproteinases-1 and Procollagen Type III Aminoterminal Peptide Levels With Incident Heart Failure and Chronic Kidney Disease. PMID:30890055
Mendelian Randomization Study of ACLY and Cardiovascular Disease. PMID:30865797
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. PMID:30850667
Proteomics Profiling and Risk of New-Onset Atrial Fibrillation: Framingham Heart Study. PMID:30841775
Federated discovery and sharing of genomic data using Beacons. PMID:30833764
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
Gene hunting with hidden Markov model knockoffs. PMID:30799875
Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. PMID:30794721
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways. PMID:30788456
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. PMID:30700791
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease. PMID:30694319
Genomic Contextualism: Shifting the Rhetoric of Genetic Exceptionalism. PMID:30676903
Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients. PMID:30650190
Genetic influence on cognitive development between childhood and adulthood. PMID:30644433
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. PMID:30638414
Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival. PMID:30596980
Enabling precision medicine via standard communication of HTS provenance, analysis, and results. PMID:30596645
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. PMID:30592451
Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder. PMID:30571770
Probing the Virtual Proteome to Identify Novel Disease Biomarkers. PMID:30571344
A Primer on Data Analytics in Functional Genomics: How to Move from Data to Insight? PMID:30522862
A map of direct TF-DNA interactions in the human genome. PMID:30517703
BioJupies: Automated Generation of Interactive Notebooks for RNA-Seq Data Analysis in the Cloud. PMID:30447998
Mediation analysis in a case-control study when the mediator is a censored variable. PMID:30421436
Enabling precision medicine in neonatology, an integrated repository for preterm birth research. PMID:30398470
atSNPInfrastructure, a case study for searching billions of records while providing significant cost savings over cloud providers. PMID:30349760
Lack of Association of a Functional Polymorphism in the Serotonin Receptor Gene With Body Mass Index and Depressive Symptoms in a Large Meta-Analysis of Population Based Studies. PMID:30333852
Potentially functional genetic variants in the complement-related immunity gene-set are associated with non-small cell lung cancer survival. PMID:30259978
DNArCdb: A database of cancer biomarkers in DNA repair genes that includes variants related to multiple cancer phenotypes. PMID:30098577
Registered access: authorizing data access. PMID:30069064
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. PMID:30067744
ADReCS-Target: target profiles for aiding drug safety research and application. PMID:30053268
Developing a synthetic psychosocial stress measure and harmonizing CVD-risk data: a way forward to GxE meta- and mega-analyses. PMID:30041705
Systemic Disease and Long-term Intraocular Pressure Mean, Peak, and Variability in Nonglaucomatous Eyes. PMID:29981739
Genetic variant of IRAK2 in the toll-like receptor signaling pathway and survival of non-small cell lung cancer. PMID:29978465
Variable selection in omics data: A practical evaluation of small sample sizes. PMID:29927942
Changing Trends in Computational Drug Repositioning. PMID:29874824
The National Sleep Research Resource: towards a sleep data commons. PMID:29860441
Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women. PMID:29850473
m6ASNP: a tool for annotating genetic variants by m6A function. PMID:29617790
Eleven quick tips for architecting biomedical informatics workflows with cloud computing. PMID:29596416
Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. PMID:29593342
Molecular Response to Neoadjuvant Chemotherapy in High-Grade Serous Ovarian Carcinoma. PMID:29523763
A Common DIO2 Polymorphism and Alzheimer Disease Dementia in African and European Americans. PMID:29481662
Data sharing and reanalysis of randomized controlled trials in leading biomedical journals with a full data sharing policy: survey of studies published in The BMJ and PLOS Medicine. PMID:29440066
Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology. PMID:29435448
Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels. PMID:29404214
Heterogeneity in effects of genetically determined adiposity on insulin resistance and type 2 diabetes: The atherosclerosis risk in communities study. PMID:29395842
Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8. PMID:29391396
Germline contamination and leakage in whole genome somatic single nucleotide variant detection. PMID:29385983
EPS-LASSO: test for high-dimensional regression under extreme phenotype sampling of continuous traits. PMID:29385408
Systematic target function annotation of human transcription factors. PMID:29325558
Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. PMID:29313974
Selection of X-chromosome Inactivation Model. PMID:29308008
Ranking factors involved in diabetes remission after bariatric surgery using machine-learning integrating clinical and genomic biomarkers. PMID:29263820
Genetic Architecture of the Cardiovascular Risk Proteome. PMID:29258991
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum. PMID:29245897
Improving average ranking precision in user searches for biomedical research datasets. PMID:29220475
Query expansion using MeSH terms for dataset retrieval: OHSU at the bioCADDIE 2016 dataset retrieval challenge. PMID:29220467
Translational bioinformatics in mental health: open access data sources and computational biomarker discovery. PMID:29186302
NONCODEV5: a comprehensive annotation database for long non-coding RNAs. PMID:29140524
Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation. PMID:29129827
Predicting age by mining electronic medical records with deep learning characterizes differences between chronological and physiological age. PMID:29113935
Genetic variants of PDGF signaling pathway genes predict cutaneous melanoma survival. PMID:29088810
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
Outcome-related, Auxiliary Variable Sampling Designs for Longitudinal Binary Data. PMID:29068841
Extending the Case-Control Design to Longitudinal Data: Stratified Sampling Based on Repeated Binary Outcomes. PMID:29068838
Identification of polymorphisms in cancer patients that differentially affect survival with age. PMID:29064820
Discovering Pediatric Asthma Phenotypes on the Basis of Response to Controller Medication Using Machine Learning. PMID:29048949
m6AVar: a database of functional variants involved in m6A modification. PMID:29036329
It's all in the timing: calibrating temporal penalties for biomedical data sharing. PMID:29036325
AZI23'UTR Is a New SLC6A3 Downregulator Associated with an Epistatic Protection Against Substance Use Disorders. PMID:28983843
Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PMID:28973033
HUMA: A platform for the analysis of genetic variation in humans. PMID:28967693
Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology. PMID:28957327
A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility. PMID:28935696
Precision annotation of digital samples in NCBI's gene expression omnibus. PMID:28925997
Will Big Data Close the Missing Heritability Gap? PMID:28893854
How Sensitive Is Genetic Data? PMID:28880588
Association of Genetic Variants Related to CETP Inhibitors and Statins With Lipoprotein Levels and Cardiovascular Risk. PMID:28846118
Docking-based modeling of protein-protein interfaces for extensive structural and functional characterization of missense mutations. PMID:28841721
Search Datasets in Literature: A Case Study of GWAS. PMID:28815103
Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival. PMID:28796414
Controlling the signal: Practical privacy protection of genomic data sharing through Beacon services. PMID:28786360
Using omics approaches to understand pulmonary diseases. PMID:28774304
A Hybrid Human-Computer Approach to the Extraction of Scientific Facts from the Literature. PMID:28649288
Predicting biomedical metadata in CEDAR: A study of Gene Expression Omnibus (GEO). PMID:28625880
Quickly identifying identical and closely related subjects in large databases using genotype data. PMID:28609482
Genomic diagnosis for children with intellectual disability and/or developmental delay. PMID:28554332
Pancreatic Islet Protein Complexes and Their Dysregulation in Type 2 Diabetes. PMID:28473845
Integrated genomic analysis of mitochondrial RNA processing in human cancers. PMID:28420414
Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. PMID:28408746
An unbiased index to quantify participant's phenotypic contribution to an open-access cohort. PMID:28387241
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer. PMID:28376176
Drug repurposing from the perspective of pharmaceutical companies. PMID:28369768
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. PMID:28302551
Genomic variants at 20p11 associated with body fat mass in the European population. PMID:28224759
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
Estimation of indirect effect when the mediator is a censored variable. PMID:28132585
Phenotype-Specific Association of Single-Nucleotide Polymorphisms with Heart Failure and Preserved Ejection Fraction: a Genome-Wide Association Analysis of the Cardiovascular Health Study. PMID:28105587
Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health. PMID:28068484
A combined reference panel from the 1000 Genomes and UK10K projects improved rare variant imputation in European and Chinese samples. PMID:28004816
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. PMID:27996019
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. PMID:27992413
Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS. PMID:27980218
LincSNP 2.0: an updated database for linking disease-associated SNPs to human long non-coding RNAs and their TFBSs. PMID:27924020
Genetic variants in the integrin signaling pathway genes predict cutaneous melanoma survival. PMID:27914105
The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data. PMID:27899644
Genome-wide Association Study of Parental Life Span. PMID:27816938
Mergeomics: multidimensional data integration to identify pathogenic perturbations to biological systems. PMID:27814671
The Global Genome Biodiversity Network (GGBN) Data Standard specification. PMID:27694206
Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. PMID:27681358
Registered access: a 'Triple-A' approach. PMID:27677416
Toward Accurate and Quantitative Comparative Metagenomics. PMID:27565341
Genetic variants of genes in the Notch signaling pathway predict overall survival of non-small cell lung cancer patients in the PLCO study. PMID:27557513
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions. PMID:27482468
Association of Maternal Prepregnancy Dyslipidemia With Adult Offspring Dyslipidemia in Excess of Anthropometric, Lifestyle, and Genetic Factors in the Framingham Heart Study. PMID:27437650
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. PMID:27374120
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. PMID:27359253
Rapid evaluation of phenotypes, SNPs and results through the dbGaP CHARGE Summary Results site. PMID:27350599
PhenoScanner: a database of human genotype-phenotype associations. PMID:27318201
Bias Characterization in Probabilistic Genotype Data and Improved Signal Detection with Multiple Imputation. PMID:27310603
A network-driven approach for genome-wide association mapping. PMID:27307613
Detecting multiple variants associated with disease based on sequencing data of case-parent trios. PMID:27278787
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. PMID:27252175
Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data. PMID:27200085
Preface - Access to Knowledge Revisited. PMID:27199193
Rail-dbGaP: analyzing dbGaP-protected data in the cloud with Amazon Elastic MapReduce. PMID:27153614
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. PMID:27087321
Growth Charting of Brain Connectivity Networks and the Identification of Attention Impairment in Youth. PMID:27076193
Scaling Up Scientific Discovery in Sleep Medicine: The National Sleep Research Resource. PMID:27070134
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays. PMID:27029637
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. PMID:27026615
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. PMID:26934580
Sharing big biomedical data. PMID:26929900
Which Genetics Variants in DNase-Seq Footprints Are More Likely to Alter Binding? PMID:26901046
Translational bioinformatics in the era of real-time biomedical, health care and wellness data streams. PMID:26876889
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
Privacy-preserving microbiome analysis using secure computation. PMID:26873931
SEPARATING THE CAUSES AND CONSEQUENCES IN DISEASE TRANSCRIPTOME. PMID:26776202
REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY. PMID:26776189
REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING. PMID:26776187
Viral infection causes a shift in the self peptide repertoire presented by human MHC class I molecules. PMID:26768311
Genetic variants in ABCG1 are associated with survival of nonsmall-cell lung cancer patients. PMID:26757251
Genotype Imputation with Millions of Reference Samples. PMID:26748515
An efficient genome-wide association test for multivariate phenotypes based on the Fisher combination function. PMID:26729364
Exploring the Major Sources and Extent of Heterogeneity in a Genome-Wide Association Meta-Analysis. PMID:26686198
Modeling X Chromosome Data Using Random Forests: Conquering Sex Bias. PMID:26639183
Practical guidelines for B-cell receptor repertoire sequencing analysis. PMID:26589402
Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival. PMID:26575331
Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease. PMID:26553695
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. PMID:26484571
Public data and open source tools for multi-assay genomic investigation of disease. PMID:26463000
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. PMID:26352407
Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes. PMID:26316594
Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research. PMID:26306643
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. PMID:26301688
Drosophila Shep and C. elegans SUP-26 are RNA-binding proteins that play diverse roles in nervous system development. PMID:26271810
XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome. PMID:26268243
FROG - Fingerprinting Genomic Variation Ontology. PMID:26244889
Contemporary Considerations for Constructing a Genetic Risk Score: An Empirical Approach. PMID:26198599
Innovative genomic collaboration using the GENESIS (GEM.app) platform. PMID:26173844
Using the PhenX Toolkit to Add Standard Measures to a Study. PMID:26132000
The European Genome-phenome Archive of human data consented for biomedical research. PMID:26111507
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. PMID:26098869
Ethical considerations of research policy for personal genome analysis: the approach of the Genome Science Project in Japan. PMID:26085440
High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA. PMID:26081108
Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification. PMID:26043787
APOL1 G1 genotype modifies the association between HDLC and kidney function in African Americans. PMID:26025194
Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy. PMID:26015570
Elucidating new drug targets in psoriasis by gene profiling: an opportunity to be seized. PMID:25992377
Measuring the corticosteroid responsiveness endophenotype in asthmatic patients. PMID:25951964
Association between Variants in Atopy-Related Immunologic Candidate Genes and Pancreatic Cancer Risk. PMID:25945796
Understanding multicellular function and disease with human tissue-specific networks. PMID:25915600
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. PMID:25877637
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth. PMID:25840117
Traits and types of health data repositories. PMID:25825668
The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients. PMID:25823661
Associations of Renin-Angiotensin-Aldosterone System Genes With Blood Pressure Changes and Hypertension Incidence. PMID:25820244
Genome-wide linkage and positional association analyses identify associations of novel AFF3 and NTM genes with triglycerides: the GenSalt study. PMID:25819087
Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. PMID:25784503
Genetics and brain morphology. PMID:25773500
Effect of naturally random allocation to lower low-density lipoprotein cholesterol on the risk of coronary heart disease mediated by polymorphisms in NPC1L1, HMGCR, or both: a 2 × 2 factorial Mendelian randomization study. PMID:25770315
Learning about the X from our parents. PMID:25713581
SNP imputation bias reduces effect size determination. PMID:25709616
Instrumental variable estimation in a survival context. PMID:25692223
Do variants associated with susceptibility to pancreatic cancer and type 2 diabetes reciprocally affect risk? PMID:25658847
Discovery of Protein-lncRNA Interactions by Integrating Large-Scale CLIP-Seq and RNA-Seq Datasets. PMID:25642422
Privacy-Preserving Publication of Diagnosis Codes for Effective Biomedical Analysis. PMID:25580471
Personal genomes, participatory genomics and the anonymity-privacy conundrum. PMID:25572254
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. PMID:25569235
A snapshot of the hepatic transcriptome: ad libitum alcohol intake suppresses expression of cholesterol synthesis genes in alcohol-preferring (P) rats. PMID:25542004
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. PMID:25493570
Transcriptome organization for chronic alcohol abuse in human brain. PMID:25450227
Applications of Business Analytics in Healthcare. PMID:25429161
Biological knowledge-driven analysis of epistasis in human GWAS with application to lipid traits. PMID:25403526
Measuring the effect of inter-study variability on estimating prediction error. PMID:25330348
Epigenome-wide association study for Parkinson's disease. PMID:25304910
Advancing the microbiome research community. PMID:25303518
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. PMID:25243787
Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers. PMID:25239644
Single-Nucleotide Polymorphisms Within MicroRNAs Sequences and Their 3' UTR Target Sites May Regulate Gene Expression in Gastrointestinal Tract Cancers. PMID:25237569
Single nucleotide variations: biological impact and theoretical interpretation. PMID:25234433
Re-contacting participants for inclusion in the database of Genotypes and Phenotypes (dbGaP): Findings from three case-control studies of lung cancer. PMID:25228924
Open access data sharing in genomic research. PMID:25178093
Identifying rare and common disease associated variants in genomic data using Parkinson's disease as a model. PMID:25175702
Data use under the NIH GWAS data sharing policy and future directions. PMID:25162809
SecureMA: protecting participant privacy in genetic association meta-analysis. PMID:25147357
The TRiC/CCT chaperone is implicated in Alzheimer's disease based on patient GWAS and an RNAi screen in Aβ-expressing Caenorhabditis elegans. PMID:25080104
Single nucleotide polymorphism-single nucleotide polymorphism interactions among inflammation genes in the genetic architecture of blood pressure in the Framingham Heart Study. PMID:25063733
X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation. PMID:25043884
Size matters: how population size influences genotype-phenotype association studies in anonymized data. PMID:25038554
Applying compressed sensing to genome-wide association studies. PMID:25002967
eMERGEing progress in genomics-the first seven years. PMID:24987407
Intentions to donate to a biobank in a national sample of African Americans. PMID:24942180
A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. PMID:24920014
The International Cancer Genome Consortium's evolving data-protection policies. PMID:24911490
Protein-protein interactions and genetic diseases: The interactome. PMID:24892209
LincSNP: a database of linking disease-associated SNPs to human large intergenic non-coding RNAs. PMID:24885522
Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. PMID:24882193
Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. PMID:24821223
Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN). PMID:24808905
Routes for breaching and protecting genetic privacy. PMID:24805122
Poly-omic prediction of complex traits: OmicKriging. PMID:24799323
Understanding the role of conscientiousness in healthy aging: where does the brain come in? PMID:24773108
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. PMID:24755620
A web-portal for interactive data exploration, visualization, and hypothesis testing. PMID:24723882
A framework for organizing cancer-related variations from existing databases, publications and NGS data using a High-performance Integrated Virtual Environment (HIVE). PMID:24667251
Analysis of multiple association studies provides evidence of an expression QTL hub in gene-gene interaction network affecting HDL cholesterol levels. PMID:24651390
Next-generation transcriptome sequencing of the premenopausal breast epithelium using specimens from a normal human breast tissue bank. PMID:24636070
Refining gold from existing data. PMID:24625777
Exploiting population samples to enhance genome-wide association studies of disease. PMID:24614931
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors. PMID:24575121
Efficient identification of context dependent subgroups of risk from genome-wide association studies. PMID:24570412
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. PMID:24560518
A Weighted Random Forests Approach to Improve Predictive Performance. PMID:24501613
Genome-wide association study of proneness to anger. PMID:24489884
Data sharing policy design for consortia: challenges for sustainability. PMID:24475754
A field guide to genomics research. PMID:24409093
AbsCN-seq: a statistical method to estimate tumor purity, ploidy and absolute copy numbers from next-generation sequencing data. PMID:24389661
PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants. PMID:24336645
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. PMID:24322204
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. PMID:24316577
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies. PMID:24301061
NCBI's Database of Genotypes and Phenotypes: dbGaP. PMID:24297256
Resequencing three candidate genes for major depressive disorder in a Dutch cohort. PMID:24278217
Breast cancer prediction using genome wide single nucleotide polymorphism data. PMID:24266904
The National Institutes of Health's Biomedical Translational Research Information System (BTRIS): design, contents, functionality and experience to date. PMID:24262893
Sex- and age-interacting eQTLs in human complex diseases. PMID:24242183
Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight. PMID:24194744
DDBJ progress report: a new submission system for leading to a correct annotation. PMID:24194602
Quantitative allelic test--a fast test for very large association studies. PMID:24185610
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts. PMID:24169523
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. PMID:24163247
PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. PMID:24163105
Combining genetic association study designs: a GWAS case study. PMID:24098305
Progress and future aspects in genetics of human hypertension. PMID:24072558
Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome Atlas. PMID:24071850
Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity. PMID:24064335
Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP). PMID:24058713
A fast multilocus test with adaptive SNP selection for large-scale genetic-association studies. PMID:24022295
Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine. PMID:24009664
PhenDisco: phenotype discovery system for the database of genotypes and phenotypes. PMID:23989082
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. PMID:23974870
Text Categorization of Heart, Lung, and Blood Studies in the Database of Genotypes and Phenotypes (dbGaP) Utilizing n-grams and Metadata Features. PMID:23926434
Meta-analysis of SNPs involved in variance heterogeneity using Levene's test for equal variances. PMID:23921533
Neuroimaging of the Philadelphia neurodevelopmental cohort. PMID:23921101
Integrative genomics identifies APOE ε4 effectors in Alzheimer's disease. PMID:23883936
Identification of two maternal transmission ratio distortion loci in pedigrees of the Framingham heart study. PMID:23828458
MiST: a new approach to variant detection in deep sequencing datasets. PMID:23828039
Identifying Mendelian disease genes with the variant effect scoring tool. PMID:23819870
Multiscale modeling of the causal functional roles of nsSNPs in a genome-wide association study: application to hypoxia. PMID:23819581
Post-genome-wide association study challenges for lipid traits: describing age as a modifier of gene-lipid associations in the Population Architecture using Genomics and Epidemiology (PAGE) study. PMID:23808484
Quantifying single nucleotide variant detection sensitivity in exome sequencing. PMID:23773188
Testing for rare variant associations in the presence of missing data. PMID:23757187
Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources. PMID:23695286
Meta-analysis methods for genome-wide association studies and beyond. PMID:23657481
A robust rerank approach for feature selection and its application to pooling-based GWA studies. PMID:23653667
Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records. PMID:23651022
Hypertension and genetic variation in endothelial-specific genes. PMID:23637959
A mechanism for controlled access to GWAS data: experience of the GAIN Data Access Committee. PMID:23561843
TIARA genome database: update 2013. PMID:23515433
Informed Consent in Genome-Scale Research: What Do Prospective Participants Think? PMID:23493836
Next-generation phenotyping: requirements and strategies for enhancing our understanding of genotype-phenotype relationships and its relevance to crop improvement. PMID:23471459
Genes, environments, and developmental research: methods for a multi-site study of early substance abuse. PMID:23461817
Evolving approaches to the ethical management of genomic data. PMID:23453621
Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PMID:23441136
ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction. PMID:23432980
Enabling high-throughput genotype-phenotype associations in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project as part of the Population Architecture using Genomics and Epidemiology (PAGE) study. PMID:23424142
Enabling genomic-phenomic association discovery without sacrificing anonymity. PMID:23405076
'What's in the NIDDK CDR?'--public query tools for the NIDDK central data repository. PMID:23396299
Integrative data analysis in clinical psychology research. PMID:23394226
HDAM: a resource of human disease associated mutations from next generation sequencing studies. PMID:23369322
High-throughput sequencing for biology and medicine. PMID:23340846
Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia. PMID:23301017
Pathway-based genetic analysis of preterm birth. PMID:23298525
Copy number variation signature to predict human ancestry. PMID:23270563
Reuse of public genome-wide gene expression data. PMID:23269463
Bioinformatics for the Human Microbiome Project. PMID:23209389
Phenotyping clinical disorders: lessons learned from pelvic organ prolapse. PMID:23200709
The Disease and Gene Annotations (DGA): an annotation resource for human disease. PMID:23197658
Strategies for annotation and curation of translational databases: the eTUMOUR project. PMID:23180768
Gene size matters. PMID:23152854
Making data sharing work: the FCP/INDI experience. PMID:23123682
Disruption of the human gut microbiota following Norovirus infection. PMID:23118957
Review of selected databases of longitudinal aging studies. PMID:23102128
Assessment of systematic effects of methodological characteristics on candidate genetic associations. PMID:23095857
Integrative analysis of somatic mutations altering microRNA targeting in cancer genomes. PMID:23091610
Models of excellence: improving oncology drug development. PMID:23085878
Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting. PMID:23068909
Systematic analysis of microRNA targeting impacted by small insertions and deletions in human genome. PMID:23049969
Bioinformatics for cancer immunology and immunotherapy. PMID:22986455
Online tools for bioinformatics analyses in nutrition sciences. PMID:22983844
Convergence of genome-wide association and candidate gene studies for alcoholism. PMID:22978509
Quick, "imputation-free" meta-analysis with proxy-SNPs. PMID:22971100
Community engagement in biobanking: Experiences from the eMERGE Network. PMID:22962560
A quantitative comparison of the similarity between genes and geography in worldwide human populations. PMID:22927824
Characterization of the standard and recommended CODIS markers. PMID:22925064
Next-generation sequencing data interpretation: enhancing reproducibility and accessibility. PMID:22898652
Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study. PMID:22832903
Reducing patient re-identification risk for laboratory results within research datasets. PMID:22822040
Context-specific ontology integration: a bayesian approach. PMID:22779057
A bayesian translational framework for knowledge propagation, discovery, and integration under specific contexts. PMID:22779044
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. PMID:22772565
Leukemia gene atlas--a public platform for integrative exploration of genome-wide molecular data. PMID:22720055
Metabolic reconstruction for metagenomic data and its application to the human microbiome. PMID:22719234
Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies. PMID:22714937
Knowledge-driven analysis identifies a gene-gene interaction affecting high-density lipoprotein cholesterol levels in multi-ethnic populations. PMID:22654671
A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder. PMID:22649524
A two-stage random forest-based pathway analysis method. PMID:22586488
A genome-wide association study identifies susceptibility loci for Wilms tumor. PMID:22544364
On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. PMID:22463877
Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors. PMID:22449891
Using PhenX measures to identify opportunities for cross-study analysis. PMID:22415805
Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study. PMID:22403240
Unrecognized sequence homologies may confound genome-wide association studies. PMID:22362730
Anonymization of longitudinal electronic medical records. PMID:22287248
Bioinformatics for personal genome interpretation. PMID:22247263
Reverse-engineering human regulatory networks. PMID:22246697
A vector space model approach to identify genetically related diseases. PMID:22227640
Donation intentions for cancer genetics research among African Americans. PMID:22224593
dbGaP data access requests: a call for greater transparency. PMID:22174311
A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data. PMID:22166943
Genomics and privacy: implications of the new reality of closed data for the field. PMID:22144881
The 2012 Nucleic Acids Research Database Issue and the online Molecular Biology Database Collection. PMID:22144685
BioProject and BioSample databases at NCBI: facilitating capture and organization of metadata. PMID:22139929
GWASdb: a database for human genetic variants identified by genome-wide association studies. PMID:22139925
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. PMID:22125226
The Human Microbiome Project: lessons from human genomics. PMID:22112388
Mutagen-specific mutation signature determines global microRNA binding. PMID:22096567
A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. PMID:22086417
PolymiRTS Database 2.0: linking polymorphisms in microRNA target sites with human diseases and complex traits. PMID:22080514
ADHDgene: a genetic database for attention deficit hyperactivity disorder. PMID:22080511
DistiLD Database: diseases and traits in linkage disequilibrium blocks. PMID:22058129
Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. PMID:22038764
Secure management of biomedical data with cryptographic hardware. PMID:22010157
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. PMID:22004471
Developing and implementing an institute-wide data sharing policy. PMID:21955348
Assessing and managing risk when sharing aggregate genetic variant data. PMID:21921928
Analysis of informed consent document utilization in a minimal-risk genetic study. PMID:21893624
Annotating individual human genomes. PMID:21839162
The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. PMID:21836165
To share or not to share: a randomized trial of consent for data sharing in genome research. PMID:21785360
The PhenX Toolkit: get the most from your measures. PMID:21749974
Identifiability in biobanks: models, measures, and mitigation strategies. PMID:21739176
Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. PMID:21738485
Broad data sharing in genetic research: views of institutional review board professionals. PMID:21736136
Identification of ATPAF1 as a novel candidate gene for asthma in children. PMID:21696813
Variants at the endocannabinoid receptor CB1 gene (CNR1) and insulin sensitivity, type 2 diabetes, and coronary heart disease. PMID:21633404
Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience. PMID:21632745
Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience. PMID:21597104
Bioinformatics challenges for personalized medicine. PMID:21596790
The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. PMID:21594894
Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PMID:21589926
Using electronic health records to drive discovery in disease genomics. PMID:21587298
Translational bioinformatics: linking knowledge across biological and clinical realms. PMID:21561873
Mind the dbGAP: the application of data mining to identify biological mechanisms. PMID:21540468
Gene expression variation between African Americans and whites is associated with coronary artery calcification: the multiethnic study of atherosclerosis. PMID:21521779
Building a biomedical cyberinfrastructure for collaborative research. PMID:21521587
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution. PMID:21504866
Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus. PMID:21498636
SNP-based pathway enrichment analysis for genome-wide association studies. PMID:21496265
Inflammation-related gene variants as risk factors for pancreatic cancer. PMID:21467233
CHRM2, parental monitoring, and adolescent externalizing behavior: evidence for gene-environment interaction. PMID:21441226
Genome-wide interaction-based association analysis identified multiple new susceptibility Loci for common diseases. PMID:21437271
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. PMID:21424820
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. PMID:21407270
Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. PMID:21402993
PRIMe: a method for characterization and evaluation of pleiotropic regions from multiple genome-wide association studies. PMID:21398673
Genome structural variation discovery and genotyping. PMID:21358748
Anonymization of administrative billing codes with repeated diagnoses through censoring. PMID:21347085
Gene-environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop. PMID:21308768
Charting a course for genomic medicine from base pairs to bedside. PMID:21307933
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. PMID:21292315
Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. PMID:21284036
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. PMID:21269473
Quality control procedures for genome-wide association studies. PMID:21234875
Type 2 diabetes genetic association database manually curated for the study design and odds ratio. PMID:21190593
VKORC1 common variation and bone mineral density in the Third National Health and Nutrition Examination Survey. PMID:21179439
Never too old for anonymity: a statistical standard for demographic data sharing via the HIPAA Privacy Rule. PMID:21169618
Multivariate analysis of regulatory SNPs: empowering personal genomics by considering cis-epistasis and heterogeneity. PMID:21121055
Multi-locus test conditional on confirmed effects leads to increased power in genome-wide association studies. PMID:21103364
Is the NIH policy for sharing GWAS data running the risk of being counterproductive? PMID:21092337
Phenomics: the next challenge. PMID:21085204
Using the Phenogen website for 'in silico' analysis of morphine-induced analgesia: identifying candidate genes. PMID:21054686
Challenges of molecular nutrition research 6: the nutritional phenotype database to store, share and evaluate nutritional systems biology studies. PMID:21052526
Neurocognitive phenotypes and genetic dissection of disorders of brain and behavior. PMID:20955930
The psychiatric GWAS consortium: big science comes to psychiatry. PMID:20955924
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. PMID:20861866
Glad you asked: participants' opinions of re-consent for dbGap data submission. PMID:20831417
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. PMID:20813861
Public and biobank participant attitudes toward genetic research participation and data sharing. PMID:20805700
OpenHelix: bioinformatics education outside of a different box. PMID:20798181
Quality control and quality assurance in genotypic data for genome-wide association studies. PMID:20718045
Varietas: a functional variation database portal. PMID:20671203
Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping. PMID:20598280
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. PMID:20548944
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PMID:20485568
The disclosure of diagnosis codes can breach research participants' privacy. PMID:20442151
Phenotype ontologies for mouse and man: bridging the semantic gap. PMID:20427557
Anonymization of electronic medical records for validating genome-wide association studies. PMID:20385806
The utility of general purpose versus specialty clinical databases for research: warfarin dose estimation from extracted clinical variables. PMID:20363365
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. PMID:20360267
On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls. PMID:20346434
Bioinformatic tools for identifying disease gene and SNP candidates. PMID:20238089
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments. PMID:20214801
Policy perspectives on the emerging pathways of personalized medicine. PMID:20135895
The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. PMID:20091798
Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe. PMID:20064633
Technical and policy approaches to balancing patient privacy and data sharing in clinical and translational research. PMID:20051768
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. PMID:20038947
Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era. PMID:20031542
Genome-wide association studies--a summary for the clinical gastroenterologist. PMID:19916168
From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PMID:19816555
An agenda for personalized medicine. PMID:19812653
A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. PMID:19801980
An extremely simple method for extraction of lysophospholipids and phospholipids from blood samples. PMID:19783525
Genome-wide association studies for atherosclerotic vascular disease and its risk factors. PMID:19750184
The HapMap and genome-wide association studies in diagnosis and therapy. PMID:19630580
Developing the blueprint for a genetic testing registry. PMID:19556748
Identifying regulatory elements in eukaryotic genomes. PMID:19498043
Validating, augmenting and refining genome-wide association signals. PMID:19373277
A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine. PMID:19309514
Planning the human variome project: the Spain report. PMID:19306394
Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics. PMID:19207024
Meta-analysis in genome-wide association studies. PMID:19207020
Mostly, your results matter to others. PMID:19174831
An open access database of genome-wide association results. PMID:19161620
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. PMID:19065144
Genotype-phenotype databases: challenges and solutions for the post-genomic era. PMID:19065136
Bivariate genome-wide linkage analysis of femoral bone traits and leg lean mass: Framingham study. PMID:19063671
HGVbaseG2P: a central genetic association database. PMID:18948288
Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. PMID:18805803
The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research. PMID:18760391
Translational bioinformatics: coming of age. PMID:18755990
Rising expectations: access to biomedical information. PMID:18587496
The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. PMID:18541031
From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. PMID:18464043
A HapMap harvest of insights into the genetics of common disease. PMID:18451988
NCBI's Database of Genotypes and Phenotypes: dbGaP PubMed citations: 217.

217 articles citing: NCBI's Database of Genotypes and Phenotypes: dbGaP

Canary: an automated tool for the conversion of MaCH imputed dosage files to PLINK files. PMID:35896971
Repurposing Drugs via Network Analysis: Opportunities for Psychiatric Disorders. PMID:35890359
A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood. PMID:35729114
Identifying alcohol misuse biotypes from neural connectivity markers and concurrent genetic associations. PMID:35710901
Single nucleotide polymorphisms in FOXP1 and RORA of the lymphocyte activation-related pathway affect survival of lung cancer patients. PMID:35693292
Associations of genetic risk, BMI trajectories, and the risk of non-small cell lung cancer: a population-based cohort study. PMID:35658861
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space. PMID:35199087
GA4GH: International policies and standards for data sharing across genomic research and healthcare. PMID:35072136
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. PMID:35032048
Two-Sample Multivariable Mendelian Randomization Analysis Using R. PMID:34936225
Competitive endogenous RNA network and pathway-based analysis of LncRNA single-nucleotide polymorphism in myasthenia gravis. PMID:34907261
Flimma: a federated and privacy-aware tool for differential gene expression analysis. PMID:34906207
Supervised Methods for Biomarker Detection from Microarray Experiments. PMID:34902125
Variant interpretation using population databases: Lessons from gnomAD. PMID:34859531
Analysis of Differentially Expressed Genes That Aggravate Metabolic Diseases in Depression. PMID:34833079
GA4GH Passport standard for digital identity and access permissions. PMID:34820660
The Data Use Ontology to streamline responsible access to human biomedical datasets. PMID:34820659
Functional genomics data: privacy risk assessment and technological mitigation. PMID:34759381
DNA Data Bank of Japan (DDBJ) update report 2021. PMID:34751405
BAMboozle removes genetic variation from human sequence data for open data sharing. PMID:34711808
Genetic Variants of CLEC4E and BIRC3 in Damage-Associated Molecular Patterns-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:34692492
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study. PMID:34669946
Meta-analysis: Congruence of genomic and phenotypic differentiation across diverse natural study systems. PMID:34603492
Identification of LINC00173 in Myasthenia Gravis by Integration Analysis of Aberrantly Methylated- Differentially Expressed Genes and ceRNA Networks. PMID:34603387
Distinct gene-set burden patterns underlie common generalized and focal epilepsies. PMID:34571366
Sysrev: A FAIR Platform for Data Curation and Systematic Evidence Review. PMID:34423285
The Genome Sequence Archive Family: Toward Explosive Data Growth and Diverse Data Types. PMID:34400360
Two-Sample Mendelian Randomization Analysis of Associations Between Periodontal Disease and Risk of Cancer. PMID:34222791
Concept libraries for automatic electronic health record based phenotyping: A review. PMID:34189274
Identification of Liver Cancer Stem Cell Stemness Markers Using a Comparative Analysis of Public Data Sets. PMID:34168465
Genetic variants of DOCK2, EPHB1 and VAV2 in the natural killer cell-related pathway are associated with non-small cell lung cancer survival. PMID:34094683
2-kupl: mapping-free variant detection from DNA-seq data of matched samples. PMID:34090332
Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic phase-related pathway are associated with nonsmall cell lung cancer survival. PMID:34058013
Clarifying the Genetic Influences on Nicotine Dependence and Quantity of Use in Cigarette Smokers. PMID:33884518
Cis-epistasis at the LPA locus and risk of cardiovascular diseases. PMID:33878186
A Bioinformatics Perspective on the Links Between Tetraspanin-Enriched Microdomains and Cardiovascular Pathophysiology. PMID:33860000
Re-analysis of Genetic Risks for Chronic Fatigue Syndrome From 23andMe Data Finds Few Remain. PMID:33816394
Data Management of Sensitive Human Proteomics Data: Current Practices, Recommendations, and Perspectives for the Future. PMID:33711481
Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. PMID:33651148
Digital phenotyping and sensitive health data: Implications for data governance. PMID:33647989
Common Genetic Variation in Humans Impacts In Vitro Susceptibility to SARS-CoV-2 Infection. PMID:33636110
NLRC5/CITA expression correlates with efficient response to checkpoint blockade immunotherapy. PMID:33547395
Potentially functional variants of HBEGF and ITPR3 in GnRH signaling pathway genes predict survival of non-small cell lung cancer patients. PMID:33400994
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. PMID:33308445
In-Depth Analysis of Genetic Variation Associated with Severe West Nile Viral Disease. PMID:33302579
Accessing NCBI data using the NCBI Sequence Viewer and Genome Data Viewer (GDV). PMID:33239395
LincSNP 3.0: an updated database for linking functional variants to human long non-coding RNAs, circular RNAs and their regulatory elements. PMID:33219661
DDBJ update: streamlining submission and access of human data. PMID:33156332
Beta-lactam-induced immediate hypersensitivity reactions: A genome-wide association study of a deeply phenotyped cohort. PMID:33058932
The Bgee suite: integrated curated expression atlas and comparative transcriptomics in animals. PMID:33037820
Ten simple rules for annotating sequencing experiments. PMID:33017400
Common genetic variation in humans impacts in vitro susceptibility to SARS-CoV-2 infection. PMID:32995783
Reconstruction of lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveals functional lncRNAs in skin cutaneous melanoma. PMID:32993558
Pleiotropic genomic variants at 17q21.31 associated with bone mineral density and body fat mass: a bivariate genome-wide association analysis. PMID:32963334
Causal inference in genetic trio studies. PMID:32948695
Genetic variants of BIRC3 and NRG1 in the NLRP3 inflammasome pathway are associated with non-small cell lung cancer survival. PMID:32905523
Novel genetic variants of SYK and ITGA1 related lymphangiogenesis signaling pathway predict non-small cell lung cancer survival. PMID:32905494
Pooled analysis of radiation hybrids identifies loci for growth and drug action in mammalian cells. PMID:32878976
HPC-REDItools: a novel HPC-aware tool for improved large scale RNA-editing analysis. PMID:32838738
Neuroimaging PheWAS (Phenome-Wide Association Study): A Free Cloud-Computing Platform for Big-Data, Brain-Wide Imaging Association Studies. PMID:32822005
A framework for pathway knowledge driven prioritization in genome-wide association studies. PMID:32779262
Novel mutation identified in Leber congenital amaurosis - a case report. PMID:32736544
Using blockchain to log genome dataset access: efficient storage and query. PMID:32693796
Novel genetic variants in genes of the Fc gamma receptor-mediated phagocytosis pathway predict non-small cell lung cancer survival. PMID:32676321
Meta-Analysis of the Alzheimer's Disease Human Brain Transcriptome and Functional Dissection in Mouse Models. PMID:32668255
Novel genetic variants of KIR3DL2 and PVR involved in immunoregulatory interactions are associated with non-small cell lung cancer survival. PMID:32642289
Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. PMID:32493705
Genetic underpinnings of cerebral edema in acute brain injury: an opportunity for pathway discovery. PMID:32464484
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? PMID:32306808
Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage. PMID:32277781
GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets. PMID:32249310
Dense module searching for gene networks associated with multiple sclerosis. PMID:32241259
APOB Genotypes and CDH13 Haplotypes in the Cholesterol-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:32238407
Pathway-guided analysis identifies Myc-dependent alternative pre-mRNA splicing in aggressive prostate cancers. PMID:32086391
Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer. PMID:32072637
Proteogenomic Characterization of Endometrial Carcinoma. PMID:32059776
Identification of the Regulatory Role of lncRNA SNHG16 in Myasthenia Gravis by Constructing a Competing Endogenous RNA Network. PMID:32059338
Dairy Intake in 2 American Adult Cohorts Associates with Novel and Known Targeted and Nontargeted Circulating Metabolites. PMID:32055836
Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies. PMID:32045423
Bringing Critical Race Praxis Into the Study of Electrophysiological Substrate of Sudden Cardiac Death: The ARIC Study. PMID:32013706
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. PMID:32005911
Open Data for Differential Network Analysis in Glioma. PMID:31952211
Cumulative sugar-sweetened beverage consumption is associated with higher concentrations of circulating ceramides in the Framingham Offspring Cohort. PMID:31826243
Cardioinformatics: the nexus of bioinformatics and precision cardiology. PMID:31802103
An omics perspective on drug target discovery platforms. PMID:31774113
Novel genetic variants in HDAC2 and PPARGC1A of the CREB-binding protein pathway predict survival of non-small-cell lung cancer. PMID:31713888
CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. PMID:31691819
Novel genetic variants in KIF16B and NEDD4L in the endosome-related genes are associated with nonsmall cell lung cancer survival. PMID:31618441
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies. PMID:31612961
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. PMID:31604923
Bringing radiomics into a multi-omics framework for a comprehensive genotype-phenotype characterization of oncological diseases. PMID:31590671
APAatlas: decoding alternative polyadenylation across human tissues. PMID:31586392
Embracing study heterogeneity for finding genetic interactions in large-scale research consortia. PMID:31583758
Discovering genetic interactions bridging pathways in genome-wide association studies. PMID:31537791
dbgap2x: an R package to explore and extract data from the database of Genotypes and Phenotypes (dbGaP). PMID:31504194
PlatformTM, a standards-based data custodianship platform for translational medicine research. PMID:31409798
Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies. PMID:31320928
Integrative Approaches to Cancer Immunotherapy. PMID:31311655
Contribution of Gene Regulatory Networks to Heritability of Coronary Artery Disease. PMID:31196451
Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy. PMID:31169925
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. PMID:31120506
Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. PMID:31066027
Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. PMID:30989732
The EMBL-EBI search and sequence analysis tools APIs in 2019. PMID:30976793
Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. PMID:30794721
The combined survival effect of codon 72 polymorphisms and p53 somatic mutations in breast cancer depends on race and molecular subtype. PMID:30730944
Racial Differences in Sudden Cardiac Death. PMID:30712378
A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury. PMID:30664875
Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients. PMID:30650190
Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival. PMID:30596980
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine. PMID:30482208
BioSamples database: an updated sample metadata hub. PMID:30407529
Enabling precision medicine in neonatology, an integrated repository for preterm birth research. PMID:30398470
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. PMID:30304647
Potentially functional genetic variants in the complement-related immunity gene-set are associated with non-small cell lung cancer survival. PMID:30259978
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Genetic variant of IRAK2 in the toll-like receptor signaling pathway and survival of non-small cell lung cancer. PMID:29978465
Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients. PMID:29973135
Informed Consent in Translational Genomics: Insufficient Without Trustworthy Governance. PMID:29962827
Causal Inference in Cancer Epidemiology: What Is the Role of Mendelian Randomization? PMID:29941659
Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women. PMID:29850473
Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS. PMID:29797095
Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes. PMID:29737278
Secure genome-wide association analysis using multiparty computation. PMID:29734293
Systematic reanalysis of genomic data improves quality of variant interpretation. PMID:29652076
A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. PMID:29650998
A FAIR guide for data providers to maximise sharing of human genomic data. PMID:29543799
Molecular Response to Neoadjuvant Chemotherapy in High-Grade Serous Ovarian Carcinoma. PMID:29523763
Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital. PMID:29515625
ImmPort, toward repurposing of open access immunological assay data for translational and clinical research. PMID:29485622
Combination Approach for Detecting Different Types of Alterations in Circulating Tumor DNA in Leiomyosarcoma. PMID:29463554
RNentropy: an entropy-based tool for the detection of significant variation of gene expression across multiple RNA-Seq experiments. PMID:29390085
Germline contamination and leakage in whole genome somatic single nucleotide variant detection. PMID:29385983
EPS-LASSO: test for high-dimensional regression under extreme phenotype sampling of continuous traits. PMID:29385408
Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. PMID:29313974
Integrated Analysis of Gene Expression Differences in Twins Discordant for Disease and Binary Phenotypes. PMID:29311748
DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition. PMID:29284518
Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS. PMID:29218913
The international nucleotide sequence database collaboration. PMID:29190397
Genetic variants of PDGF signaling pathway genes predict cutaneous melanoma survival. PMID:29088810
Using DIVAN to assess disease/trait-associated single nucleotide variants in genome-wide scale. PMID:29084591
RMBase v2.0: deciphering the map of RNA modifications from epitranscriptome sequencing data. PMID:29040692
DNA Data Bank of Japan: 30th anniversary. PMID:29040613
Polymorphisms in genes related to epithelial-mesenchymal transition and risk of non-small cell lung cancer. PMID:28968839
Big data management challenges in health research-a literature review. PMID:28968677
The Role of Obesity, Type 2 Diabetes, and Metabolic Factors in Pancreatic Cancer: A Mendelian Randomization Study. PMID:28954281
D2Refine: A Platform for Clinical Research Study Data Element Harmonization and Standardization. PMID:28815140
Extending TCGA queries to automatically identify analogous genomic data from dbGaP. PMID:28794857
Impact of Sixteen Established Pancreatic Cancer Susceptibility Loci in American Jews. PMID:28754795
Improving power for rare-variant tests by integrating external controls. PMID:28657150
Predicting structured metadata from unstructured metadata. PMID:28637268
Allelic imbalance of somatic mutations in cancer genomes and transcriptomes. PMID:28490743
Integrated genomic analysis of mitochondrial RNA processing in human cancers. PMID:28420414
An unbiased index to quantify participant's phenotypic contribution to an open-access cohort. PMID:28387241
Standardized Representation of Clinical Study Data Dictionaries with CIMI Archetypes. PMID:28269909
ALKBH7 Variant Related to Prostate Cancer Exhibits Altered Substrate Binding. PMID:28231280
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. PMID:28157539
Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. PMID:28122634
Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. PMID:28043905
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers. PMID:28029147
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. PMID:27996019
DNA Data Bank of Japan. PMID:27924010
Genetic variants in the integrin signaling pathway genes predict cutaneous melanoma survival. PMID:27914105
The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data. PMID:27899644
Genome-wide Association Study of Parental Life Span. PMID:27816938
snpGeneSets: An R Package for Genome-Wide Study Annotation. PMID:27807048
Genome-wide significance testing of variation from single case exomes. PMID:27776118
Systems genetics analysis of pharmacogenomics variation during antidepressant treatment. PMID:27752142
The Global Genome Biodiversity Network (GGBN) Data Standard specification. PMID:27694206
Single-Nucleotide Resolution Mapping of Hepatitis B Virus Promoters in Infected Human Livers and Hepatocellular Carcinoma. PMID:27681123
Data sources for in vivo molecular profiling of human phenotypes. PMID:27599755
Genetic variants of genes in the Notch signaling pathway predict overall survival of non-small cell lung cancer patients in the PLCO study. PMID:27557513
ISOexpresso: a web-based platform for isoform-level expression analysis in human cancer. PMID:27519173
Databases and tools for constructing signal transduction networks in cancer. PMID:27502015
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. PMID:27455347
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. PMID:27374120
Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia. PMID:27181063
Facilitating a culture of responsible and effective sharing of cancer genome data. PMID:27149219
Novel bioinformatic developments for exome sequencing. PMID:27075447
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. PMID:27026615
DNAdigest and Repositive: Connecting the World of Genomic Data. PMID:27011302
Sharing big biomedical data. PMID:26929900
Translational bioinformatics in the era of real-time biomedical, health care and wellness data streams. PMID:26876889
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships. PMID:26818594
Viral infection causes a shift in the self peptide repertoire presented by human MHC class I molecules. PMID:26768311
Genetic variants in ABCG1 are associated with survival of nonsmall-cell lung cancer patients. PMID:26757251
Forward Individualized Medicine from Personal Genomes to Interactomes. PMID:26696898
Taking Bioinformatics to Systems Medicine. PMID:26677177
Multiple susceptibility loci at chromosome 11q23.3 are associated with plasma triglyceride in East Asians. PMID:26634697
BreCAN-DB: a repository cum browser of personalized DNA breakpoint profiles of cancer genomes. PMID:26586806
ClinVar: public archive of interpretations of clinically relevant variants. PMID:26582918
DNA data bank of Japan (DDBJ) progress report. PMID:26578571
Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival. PMID:26575331
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Building the foundation for genomics in precision medicine. PMID:26469044
RMBase: a resource for decoding the landscape of RNA modifications from high-throughput sequencing data. PMID:26464443
Susceptibility Loci for Clinical Coronary Artery Disease and Subclinical Coronary Atherosclerosis Throughout the Life-Course. PMID:26417035
Computational approaches to study the effects of small genomic variations. PMID:26350246
XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome. PMID:26268243
Data analysis: Create a cloud commons. PMID:26156357
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. PMID:26098869
Genetics of diabetic nephropathy: a long road of discovery. PMID:25971618
Big Data Technologies: New Opportunities for Diabetes Management. PMID:25910540
The uniform-score gene set analysis for identifying common pathways associated with different diabetes traits. PMID:25898945
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. PMID:25877637
Associations of Renin-Angiotensin-Aldosterone System Genes With Blood Pressure Changes and Hypertension Incidence. PMID:25820244
Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes. PMID:25533967
The DDBJ Japanese Genotype-phenotype Archive for genetic and phenotypic human data. PMID:25477381
Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease. PMID:25397881
VaDE: a manually curated database of reproducible associations between various traits and human genomic polymorphisms. PMID:25361969
NGS-Logistics: federated analysis of NGS sequence variants across multiple locations. PMID:25328540
Single nucleotide variations: biological impact and theoretical interpretation. PMID:25234433
The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events. PMID:24963371
Routes for breaching and protecting genetic privacy. PMID:24805122
Genomic convergence and network analysis approach to identify candidate genes in Alzheimer's disease. PMID:24628925
The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection. PMID:24316579
http://dx.doi.org/10.1093/nar/gkt1211

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More detailed information about this field from each metasource.

gene expression data
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

genome-wide association study
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

genotype
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: dbGaP; Database of Genotypes and Phenotypes; DOI: https://doi.org/10.25504/FAIRsharing.88v2k0; Last edited: March 2, 2021, 12:08 p.m.; Last accessed: Jan 03 2022 7:05 p.m.

metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general human genetics databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

cells - morphology
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

genetic recombination
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

genotype-environment interaction
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

homology (biology)
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

molecular diagnosis
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

morphology
metasource: re3data.org
version: re3data.org: NCBI dbGaP; editing status 2021-10-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3GS4K last accessed: 2022-11-04

genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

epigenomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

experimental design and studies
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866

gene expression polymorphism genome-wide association study genotype phenotype human genes and diseases general human genetics cells - morphology genetic recombination genotype-environment interaction homology (biology) molecular diagnosis morphology genotype and phenotype epigenomics experimental design and studies rare diseases

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