PheWAS

Names
More detailed information about this field from each metasource.

PheWAS
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Phenome Wide Association Studies
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

PheWAS catalog
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Other names: Phenome Wide Association Studies, PheWAS catalog

Phenome-wide association studies (PheWAS) analyze many phenotypes compared to a single genetic variant (or other attribute). This method was originally described using electronic medical record (EMR) data from EMR-linked in the Vanderbilt DNA biobank, BioVU, but can also be applied to other richly phenotyped sets.

Webpage:

https://phewascatalog.org

Licence:

Name: Creative Commons Attribution v4.0
URL: https://phewascatalog.org

Publications:

Publications
More detailed information about this field from each metasource.

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
PMID: 20335276
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies
PMID: 21981779
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

The phenotypic legacy of admixture between modern humans and Neandertals
PMID: 26912863
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations PubMed citations: 483.

483 articles citing: PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

Mapping the Read2/CTV3 controlled clinical terminologies to Phecodes in UK Biobank primary care electronic health records: implementation and evaluation. PMID:35308936
Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS). PMID:35275837
Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits. PMID:35241783
Sleep apnea phenotyping and relationship to disease in a large clinical biobank. PMID:35156000
Contextual Deep Regression Network for Volume Estimation in Orbital CT. PMID:35098262
Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank. PMID:35080590
New insights into pathogenesis of IgA nephropathy. PMID:35048307
Maturation and application of phenome-wide association studies. PMID:34991903
Predictive Modeling for Clinical Features Associated With Neurofibromatosis Type 1. PMID:34987881
Phenome-Wide Association Studies. PMID:34982132
pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis. PMID:34981404
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose. PMID:34954144
Embedding electronic health records onto a knowledge network recognizes prodromal features of multiple sclerosis and predicts diagnosis. PMID:34915552
Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases. PMID:34912794
Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank. PMID:34912076
netCRS: Network-based comorbidity risk score for prediction of myocardial infarction using biobank-scaled PheWAS data. PMID:34890160
An explainable CNN approach for medical codes prediction from clinical text. PMID:34789241
Systems Approach to Integrating Preclinical Apolipoprotein E-Knockout Investigations Reveals Novel Etiologic Pathways and Master Atherosclerosis Network in Humans. PMID:34758633
Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature. PMID:34743558
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. PMID:34715901
On the Nature of Informative Presence Bias in Analyses of Electronic Health Records. PMID:34711733
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans. PMID:34678161
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. PMID:34642702
ATLAS: an automated association test using probabilistically linked health records with application to genetic studies. PMID:34608931
A cross-population atlas of genetic associations for 220 human phenotypes. PMID:34594039
Evolving phenotypes of non-hospitalized patients that indicate long COVID. PMID:34565368
Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype. PMID:34545125
PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus. PMID:34541463
On cross-ancestry cancer polygenic risk scores. PMID:34529658
Using genetics to detangle the relationships between red cell distribution width and cardiovascular diseases: a unique role for body mass index. PMID:34521746
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine. PMID:34516913
Desiderata for the development of next-generation electronic health record phenotype libraries. PMID:34508578
Real-world data analyses unveiled the immune-related adverse effects of immune checkpoint inhibitors across cancer types. PMID:34508179
Characterizing phenotypic abnormalities associated with high-risk individuals developing lung cancer using electronic health records from the All of Us researcher workbench. PMID:34505903
Microinjection quality control in zebrafish model for genetic manipulations. PMID:34430313
Medical phenome of musicians: an investigation of health records collected on 9803 musically active individuals. PMID:34414577
Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder. PMID:34405856
Stroke Genetics: Turning Discoveries into Clinical Applications. PMID:34399583
Human and Machine Intelligence Together Drive Drug Repurposing in Rare Diseases. PMID:34394194
Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease. PMID:34380996
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. PMID:34341784
The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene. PMID:34341450
Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. PMID:34315903
An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan. PMID:34301328
Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank. PMID:34301302
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome. PMID:34256808
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. PMID:34230933
Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data. PMID:34211504
dxpr: an R package for generating analysis-ready data from electronic health records-diagnoses and procedures. PMID:34141876
A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations. PMID:34140970
Defining Phenotypes from Clinical Data to Drive Genomic Research. PMID:34109303
High-throughput framework for genetic analyses of adverse drug reactions using electronic health records. PMID:34061827
Phenome-wide and expression quantitative trait locus associations of coronavirus disease 2019 genetic risk loci. PMID:34027315
Finding commonalities in rare diseases through the undiagnosed diseases network. PMID:34009343
Accelerating diagnosis of Parkinson's disease through risk prediction. PMID:34006233
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:34001247
Phenome-wide association of 1809 phenotypes and COVID-19 disease progression in the Veterans Health Administration Million Veteran Program. PMID:33984066
A machine learning model for identifying patients at risk for wild-type transthyretin amyloid cardiomyopathy. PMID:33976166
Multi-omic analysis elucidates the genetic basis of hydrocephalus. PMID:33951428
A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. PMID:33941792
Medical Records-Based Genetic Studies of the Complement System. PMID:33941608
Identifying developmental stuttering and associated comorbidities in electronic health records and creating a phenome risk classifier. PMID:33894541
Genetic Epidemiology of Complex Phenotypes. PMID:33871853
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies. PMID:33850243
A Phenome-Wide Association Study (PheWAS) of COVID-19 Outcomes by Race Using the Electronic Health Records Data in Michigan Medicine. PMID:33805886
Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene SLC39A8. PMID:33790950
Factor graph-aggregated heterogeneous network embedding for disease-gene association prediction. PMID:33781206
ConceptWAS: A high-throughput method for early identification of COVID-19 presenting symptoms and characteristics from clinical notes. PMID:33774203
Emerging issues in genomic selection. PMID:33773494
SUSTain: Scalable Unsupervised Scoring for Tensors and its Application to Phenotyping. PMID:33680534
Linking clinotypes to phenotypes and genotypes from laboratory test results in comprehensive physical exams. PMID:33627109
Stratification of Estrogen Receptor-Negative Breast Cancer Patients by Integrating the Somatic Mutations and Transcriptomic Data. PMID:33613637
Interprofessional education of the next generation of musician-scientists through music cognition research training: An innovative platform for health professions and biomedical research. PMID:33603955
A high-throughput phenotyping algorithm is portable from adult to pediatric populations. PMID:33594412
Genetic determinants of daytime napping and effects on cardiometabolic health. PMID:33568662
Detecting differentially methylated regions using a fast wavelet-based approach to functional association analysis. PMID:33568045
Genome-wide association study of circulating interleukin 6 levels identifies novel loci. PMID:33517400
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases? PMID:33478553
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:33398303
Epidemiology of Functional Seizures Among Adults Treated at a University Hospital. PMID:33372972
Integrative analyses identify susceptibility genes underlying COVID-19 hospitalization. PMID:33330876
A retrospective approach to evaluating potential adverse outcomes associated with delay of procedures for cardiovascular and cancer-related diagnoses in the context of COVID-19. PMID:33309899
Novel and known morbidities of leukodystrophies identified using a phenome-wide association study. PMID:33299668
ConceptWAS: a high-throughput method for early identification of COVID-19 presenting symptoms. PMID:33200151
PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort. PMID:33166319
The association of clinical phenotypes to known AD/FTD genetic risk loci and their inter-relationship. PMID:33152005
Leverage of genetic variants proxying smoking intensity to explore the broad health consequences of smoking. PMID:33089119
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS. PMID:33051675
Disease trajectory browser for exploring temporal, population-wide disease progression patterns in 7.2 million Danish patients. PMID:33009368
PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records. PMID:32974638
Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. PMID:32964493
The Astounding Breadth of Health Disparity: Phenome-Wide Effects of Race on Disease Risk. PMID:32958289
Sleep health, diseases, and pain syndromes: findings from an electronic health record biobank. PMID:32954408
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. PMID:32888493
Recommendations for patient similarity classes: results of the AMIA 2019 workshop on defining patient similarity. PMID:32885823
Implicit bias of encoded variables: frameworks for addressing structured bias in EHR-GWAS data. PMID:32879975
Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation. PMID:32869547
Neuroimaging PheWAS (Phenome-Wide Association Study): A Free Cloud-Computing Platform for Big-Data, Brain-Wide Imaging Association Studies. PMID:32822005
Phenome-wide examination of comorbidity burden and multiple sclerosis disease severity. PMID:32817202
A phenome-wide association study (PheWAS) of COVID-19 outcomes by race using the electronic health records data in Michigan Medicine. PMID:32793923
Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder. PMID:32662293
Joy of Ping-Pong: Genome-Wide and Phenome-Wide Association Studies. PMID:32638556
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank. PMID:32589924
sureLDA: A multidisease automated phenotyping method for the electronic health record. PMID:32548637
A comprehensive map of disease networks and molecular drug discoveries for glaucoma. PMID:32546683
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis. PMID:32541925
Exploring and visualizing large-scale genetic associations by using PheWeb. PMID:32504056
Potential positive and negative consequences of ZnT8 inhibition. PMID:32485672
Developing a FHIR-based Framework for Phenome Wide Association Studies: A Case Study with A Pan-Cancer Cohort. PMID:32477698
Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review. PMID:32436848
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. PMID:32372017
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications. PMID:32324503
Identifying Cancer Patients at Risk for Heart Failure Using Machine Learning Methods. PMID:32308890
Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD. PMID:32302534
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. PMID:32296164
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PMID:32282858
GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets. PMID:32249310
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways. PMID:32247630
Detecting Shared Genetic Architecture Among Multiple Phenotypes by Hierarchical Clustering of Gene-Level Association Statistics. PMID:32245788
Electronic health records and polygenic risk scores for predicting disease risk. PMID:32235907
Pancreatic islet beta cell-specific deletion of G6pc2 reduces fasting blood glucose. PMID:32213654
Phenome-Wide Scan Finds Potential Orofacial Risk Markers for Cancer. PMID:32184411
Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use. PMID:32112228
Harnessing Population Pedigree Data and Machine Learning Methods to Identify Patterns of Familial Bladder Cancer Risk. PMID:32098890
Mouse Systems Genetics as a Prelude to Precision Medicine. PMID:32037011
Development of a System for Postmarketing Population Pharmacokinetic and Pharmacodynamic Studies Using Real-World Data From Electronic Health Records. PMID:31957870
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. PMID:31937769
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. PMID:31932796
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies. PMID:31917831
A brief history of human disease genetics. PMID:31915397
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. PMID:31892343
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. PMID:31891604
Large-Scale Simultaneous Testing of Cross-Covariance Matrices with Applications to PheWAS. PMID:31889766
PheGWAS: a new dimension to visualize GWAS across multiple phenotypes. PMID:31860083
The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities. PMID:31859414
Discovering novel disease comorbidities using electronic medical records. PMID:31774837
A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank. PMID:31735295
Automated grouping of medical codes via multiview banded spectral clustering. PMID:31672532
Body Shape and Alzheimer's Disease: A Mendelian Randomization Analysis. PMID:31649504
A systems approach to clinical oncology uses deep phenotyping to deliver personalized care. PMID:31619755
Precision oncology: lessons learned and challenges for the future. PMID:31616176
High-throughput multimodal automated phenotyping (MAP) with application to PheWAS. PMID:31613361
Psychiatric Genetics, Epigenetics, and Cellular Models in Coming Years. PMID:31608310
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization. PMID:31605180
Use of Natural Language Processing Algorithms to Identify Common Data Elements in Operative Notes for Total Hip Arthroplasty. PMID:31567670
Druggable Transcriptional Networks in the Human Neurogenic Epigenome. PMID:31530573
A regression framework to uncover pleiotropy in large-scale electronic health record data. PMID:31529123
Phenome-wide Mendelian-randomization study of genetically determined vitamin D on multiple health outcomes using the UK Biobank study. PMID:31518429
Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness. PMID:31518406
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior. PMID:31467194
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. PMID:31457090
Rubik: Knowledge Guided Tensor Factorization and Completion for Health Data Analytics. PMID:31452969
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. PMID:31451708
Use of Natural Language Processing Tools to Identify and Classify Periprosthetic Femur Fractures. PMID:31416741
Disease associations depend on visit type: results from a visit-wide association study. PMID:31338127
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. PMID:31311600
A review of drug knowledge discovery using BioNLP and tensor or matrix decomposition. PMID:31307133
Integrating biomedical research and electronic health records to create knowledge-based biologically meaningful machine-readable embeddings. PMID:31292438
Genome-wide association study of peripheral artery disease in the Million Veteran Program. PMID:31285632
AI in MRI: A case for grassroots deep learning. PMID:31283972
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. PMID:31216868
Using phenome-wide association studies to examine the effect of environmental exposures on human health. PMID:31200158
Family History-Wide Association Study to Identify Clinical and Environmental Risk Factors for Common Chronic Diseases. PMID:31172187
DNA methylation profiles are associated with complex regional pain syndrome after traumatic injury. PMID:31145213
Discovery of Noncancer Drug Effects on Survival in Electronic Health Records of Patients With Cancer: A New Paradigm for Drug Repurposing. PMID:31141421
Natural Language Processing for the Identification of Silent Brain Infarcts From Neuroimaging Reports. PMID:31066686
Evaluation of the association of bariatric surgery with subsequent depression. PMID:31040396
Advanced Genetic Approaches in Discovery and Characterization of Genes Involved With Osteoporosis in Mouse and Human. PMID:31001327
An exploratory phenome wide association study linking asthma and liver disease genetic variants to electronic health records from the Estonian Biobank. PMID:30978214
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects. PMID:30952858
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
Learning Contextual Hierarchical Structure of Medical Concepts with Poincairé Embeddings to Clarify Phenotypes. PMID:30864306
Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits. PMID:30849219
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. PMID:30827500
Detecting the Presence of an Individual in Phenotypic Summary Data. PMID:30815118
A Phenome-Wide Association Study Uncovers a Pathological Role of Coagulation Factor X during Acinetobacter baumannii Infection. PMID:30782860
PheWAS-Based Systems Genetics Methods for Anti-Breast Cancer Drug Discovery. PMID:30781719
Diagnostic Algorithms to Study Post-Concussion Syndrome Using Electronic Health Records: Validating a Method to Capture an Important Patient Population. PMID:30773988
Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA). PMID:30759150
Feature extraction for phenotyping from semantic and knowledge resources. PMID:30738949
Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche. PMID:30735122
Integrating an Ontology of Radiology Differential Diagnosis with ICD-10-CM, RadLex, and SNOMED CT. PMID:30706210
A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study. PMID:30704471
Using phenome-wide association to investigate the function of a schizophrenia risk locus at SLC39A8. PMID:30696806
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. PMID:30673079
Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico. PMID:30669967
A clinical text classification paradigm using weak supervision and deep representation. PMID:30616584
Unbiased Phenome-Wide Association Studies of Red Cell Distribution Width Identifies Key Associations with Pulmonary Hypertension. PMID:30608875
Electronic Medical Record Context Signatures Improve Diagnostic Classification Using Medical Image Computing. PMID:30602428
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals. PMID:30598166
Using natural language processing and machine learning to identify breast cancer local recurrence. PMID:30591037
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. PMID:30578418
Probing the Virtual Proteome to Identify Novel Disease Biomarkers. PMID:30571344
Challenges in Personalized Nutrition and Health. PMID:30555829
PathFX provides mechanistic insights into drug efficacy and safety for regulatory review and therapeutic development. PMID:30532240
Using Electronic Health Records To Generate Phenotypes For Research. PMID:30516347
ANCO-GeneDB: annotations and comprehensive analysis of candidate genes for alcohol, nicotine, cocaine and opioid dependence. PMID:30403795
Chemistry-Wide Association Studies (CWAS): A Novel Framework for Identifying and Interpreting Structure-Activity Relationships. PMID:30376324
Genomic and Phenomic Research in the 21st Century. PMID:30342790
Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. PMID:30333165
Phenome-wide association studies across large population cohorts support drug target validation. PMID:30327483
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. PMID:30298529
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. PMID:30297969
Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study. PMID:30281024
Patient and healthcare provider views on a patient-reported outcomes portal. PMID:30239733
Pulling the covers in electronic health records for an association study with self-reported sleep behaviors. PMID:30183400
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. PMID:30166544
Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records. PMID:30153257
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. PMID:30131872
Fishing forward and reverse: Advances in zebrafish phenomics. PMID:30130581
Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy: A Phenome-Wide Association Study. PMID:30090940
Natural Language Processing for EHR-Based Computational Phenotyping. PMID:29994486
AUDIT-C and ICD codes as phenotypes for harmful alcohol use: association with ADH1B polymorphisms in two US populations. PMID:29972609
Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects. PMID:29912272
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. PMID:29899519
Learning Opportunities for Drug Repositioning via GWAS and PheWAS Findings. PMID:29888080
Uneven Distribution of Mutational Variance Across the Transcriptome of Drosophila serrata Revealed by High-Dimensional Analysis of Gene Expression. PMID:29884746
Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis. PMID:29854225
The MR-Base platform supports systematic causal inference across the human phenome. PMID:29846171
Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association. PMID:29844141
PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies. PMID:29788308
Association of ST2 polymorphisms with atopy, asthma, and leukemia. PMID:29787780
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. PMID:29779563
Human monocyte transcriptional profiling identifies IL-18 receptor accessory protein and lactoferrin as novel immune targets in hypertension. PMID:29774543
Loss of CENP-F Results in Dilated Cardiomyopathy with Severe Disruption of Cardiac Myocyte Architecture. PMID:29765066
Genome sequencing in the clinic: the past, present, and future of genomic medicine. PMID:29727589
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Circulating Troponin I Level in Patients with Acute Ischemic Stroke. PMID:29679162
A Systems Approach to Refine Disease Taxonomy by Integrating Phenotypic and Molecular Networks. PMID:29669699
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders. PMID:29659871
Phenome-wide association study identifies marked increased in burden of comorbidities in African Americans with systemic lupus erythematosus. PMID:29636090
Clinical Features Associated With Nascent Left Ventricular Diastolic Dysfunction in a Population Aged 40 to 55 Years. PMID:29627106
Recent Genetics and Epigenetics Approaches to PTSD. PMID:29623448
A simulation study investigating power estimates in phenome-wide association studies. PMID:29618318
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Clinical Natural Language Processing in languages other than English: opportunities and challenges. PMID:29602312
Electronic health records: the next wave of complex disease genetics. PMID:29547983
Current Scope and Challenges in Phenome-Wide Association Studies. PMID:29545989
Rare variants in drug target genes contributing to complex diseases, phenome-wide. PMID:29545597
An Epidemiological Human Disease Network Derived from Disease Co-occurrence in Taiwan. PMID:29540710
Large-Scale Genomic Biobanks and Cardiovascular Disease. PMID:29520520
Phenome-Wide Association Studies Uncover a Novel Association of Increased Atrial Fibrillation in Male Patients With Systemic Lupus Erythematosus. PMID:29481723
Interaction patterns of trauma providers are associated with length of stay. PMID:29481625
Calcium channel blockers as drug repurposing candidates for gestational diabetes: Mining large scale genomic and electronic health records data to repurpose medications. PMID:29448118
MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank. PMID:29437585
An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies. PMID:29378629
Another Round of "Clue" to Uncover the Mystery of Complex Traits. PMID:29370075
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology. PMID:29295162
Heterogeneity of asthma and the risk of celiac disease in children. PMID:29279060
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. PMID:29273807
Enhancing the Promise of Drug Repositioning through Genetics. PMID:29270124
Motivation for Launching a Cancer Metastasis Inhibition (CMI) Program. PMID:29218624
PIE: A prior knowledge guided integrated likelihood estimation method for bias reduction in association studies using electronic health records data. PMID:29206922
When Enough Is Enough: Decision Criteria for Moving a Known Drug into Clinical Testing for a New Indication in the Absence of Preclinical Efficacy Data. PMID:29193979
Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors. PMID:29185237
Learning bundled care opportunities from electronic medical records. PMID:29174994
The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development. PMID:29171014
Association between borderline dysnatremia and mortality insight into a new data mining approach. PMID:29166900
Clinical information extraction applications: A literature review. PMID:29162496
Genome-wide and Phenome-wide Approaches to Understand Variable Drug Actions in Electronic Health Records. PMID:29148204
Enabling phenotypic big data with PheNorm. PMID:29126253
A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14. PMID:29096998
PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. PMID:29079728
Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank. PMID:29040602
The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain. PMID:29038237
Phenotype validation in electronic health records based genetic association studies. PMID:29023970
Polygenic loading for major depression is associated with specific medical comorbidity. PMID:28926002
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. PMID:28895531
Relationship of SULT1A1 copy number variation with estrogen metabolism and human health. PMID:28867356
Efficient genome-wide association in biobanks using topic modeling identifies multiple novel disease loci. PMID:28861588
Reaching for the next branch on the biobank tree of knowledge. PMID:28854181
Classification of common human diseases derived from shared genetic and environmental determinants. PMID:28783162
TEPAPA: a novel in silico feature learning pipeline for mining prognostic and associative factors from text-based electronic medical records. PMID:28761061
Towards a more molecular taxonomy of disease. PMID:28750648
IL-6 variant is associated with metastasis in breast cancer patients. PMID:28732081
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PMID:28686612
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. PMID:28611204
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. PMID:28602423
The Diagnosis-Wide Landscape of Hospital-Acquired AKI. PMID:28495862
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. PMID:28490672
Clinical Data Reuse or Secondary Use: Current Status and Potential Future Progress. PMID:28480475
Inter-labeler and intra-labeler variability of condition severity classification models using active and passive learning methods. PMID:28456512
The joint effect of air pollution exposure and copy number variation on risk for autism. PMID:28448694
Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort. PMID:28422977
Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. PMID:28416512
Combining clinical and genomics queries using i2b2 - Three methods. PMID:28388645
The anatomy of phenotype ontologies: principles, properties and applications. PMID:28387809
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. PMID:28379727
Hypothesis-Free Search for Connections between Birth Month and Disease Prevalence in Large, Geographically Varied Cohorts. PMID:28269826
Phenome-wide association studies: a new method for functional genomics in humans. PMID:28229460
Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. PMID:28103227
Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health. PMID:28068484
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. PMID:27899403
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. PMID:27876822
Biomechanisms of Comorbidity: Reviewing Integrative Analyses of Multi-omics Datasets and Electronic Health Records. PMID:27830251
Natural Selection in the Great Apes. PMID:27795229
Phenome-Wide Association Study of Autoantibodies to Citrullinated and Noncitrullinated Epitopes in Rheumatoid Arthritis. PMID:27792870
Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. PMID:27780847
Minimax Rate-optimal Estimation of High-dimensional Covariance Matrices with Incomplete Data. PMID:27777471
Transcription factor ETV1 is essential for rapid conduction in the heart. PMID:27775552
SZGR 2.0: a one-stop shop of schizophrenia candidate genes. PMID:27733502
Integration of complex data sources to provide biologic insight into pulmonary vascular disease (2015 Grover Conference Series). PMID:27683602
Surrogate-assisted feature extraction for high-throughput phenotyping. PMID:27632993
An information model for computable cancer phenotypes. PMID:27629872
Replicating Cardiovascular Condition-Birth Month Associations. PMID:27624541
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression. PMID:27611587
Phenome-Wide Association Study of Rheumatoid Arthritis Subgroups Identifies Association Between Seronegative Disease and Fibromyalgia. PMID:27589350
Heterozygosity Ratio, a Robust Global Genomic Measure of Autozygosity and Its Association with Height and Disease Risk. PMID:27585849
PALME: PAtients Like My gEnome. PMID:27570674
In Search of 'Birth Month Genes': Using Existing Data Repositories to Locate Genes Underlying Birth Month-Disease Relationships. PMID:27570668
Identifying collaborative care teams through electronic medical record utilization patterns. PMID:27570217
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities. PMID:27529678
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases. PMID:27508393
Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods. PMID:27506131
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals. PMID:27497800
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions. PMID:27482468
Pathway and network-based strategies to translate genetic discoveries into effective therapies. PMID:27340225
Approaches to uncovering cancer diagnostic and prognostic molecular signatures. PMID:27308330
Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks. PMID:27307606
DermO; an ontology for the description of dermatologic disease. PMID:27296450
Phenome-wide association study maps new diseases to the human major histocompatibility complex region. PMID:27287392
Evidence for extensive pleiotropy among pharmacogenes. PMID:27249515
Extracting a stroke phenotype risk factor from Veteran Health Administration clinical reports: an information content analysis. PMID:27175226
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. PMID:27147087
Targeting the untargeted in molecular phenomics with structurally-selective ion mobility-mass spectrometry. PMID:27132126
Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids). PMID:27126235
Identifying genetically driven clinical phenotypes using linear mixed models. PMID:27109359
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. PMID:27026615
A network-based drug repositioning infrastructure for precision cancer medicine through targeting significantly mutated genes in the human cancer genomes. PMID:27026610
Improving condition severity classification with an efficient active learning based framework. PMID:27016383
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. PMID:26976545
Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes. PMID:26958218
Mining and Visualizing Family History Associations in the Electronic Health Record: A Case Study for Pediatric Asthma. PMID:26958171
The phenotypic legacy of admixture between modern humans and Neandertals. PMID:26912863
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
Joint mouse-human phenome-wide association to test gene function and disease risk. PMID:26833085
PRECISION MEDICINE: DATA AND DISCOVERY FOR IMPROVED HEALTH AND THERAPY. PMID:26776190
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES. PMID:26776183
Patient Stratification Using Electronic Health Records from a Chronic Disease Management Program. PMID:26742152
A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC. PMID:26720789
Taking Bioinformatics to Systems Medicine. PMID:26677177
Integrating electronic health record genotype and phenotype datasets to transform patient care. PMID:26667791
Systems Genetic Validation of the SNP-Metabolite Association in Rice Via Metabolite-Pathway-Based Phenome-Wide Association Scans. PMID:26640468
Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. PMID:26566401
Identification of type 2 diabetes subgroups through topological analysis of patient similarity. PMID:26511511
Proceedings of the 14th Annual UT-KBRIN Bioinformatics Summit 2015. PMID:26510995
Genetic sharing and heritability of paediatric age of onset autoimmune diseases. PMID:26450413
The digital revolution in phenotyping. PMID:26420780
The genetics of human autoimmune disease: A perspective on progress in the field and future directions. PMID:26343334
Desiderata for computable representations of electronic health records-driven phenotype algorithms. PMID:26342218
Are All Vaccines Created Equal? Using Electronic Health Records to Discover Vaccines Associated With Clinician-Coded Adverse Events. PMID:26306268
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. PMID:26301688
The Matchmaker Exchange: a platform for rare disease gene discovery. PMID:26295439
Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia. PMID:26265699
Common Genetic Variants Influence Circulating Vitamin D Levels in Inflammatory Bowel Diseases. PMID:26241000
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants. PMID:26185613
A Method to Combine Signals from Spontaneous Reporting Systems and Observational Healthcare Data to Detect Adverse Drug Reactions. PMID:26153397
Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery. PMID:26146598
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
Using text mining techniques to extract phenotypic information from the PhenoCHF corpus. PMID:26099853
Patient Electronic Health Records as a Means to Approach Genetic Research in Gastroenterology. PMID:26073373
Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach. PMID:26047609
Mutual Information between Discrete Variables with Many Categories using Recursive Adaptive Partitioning. PMID:26046461
Birth month affects lifetime disease risk: a phenome-wide method. PMID:26041386
Open Source Clinical NLP - More than Any Single System. PMID:25954581
Development and validation of an electronic phenotyping algorithm for chronic kidney disease. PMID:25954398
Extracting research-quality phenotypes from electronic health records to support precision medicine. PMID:25937834
Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources. PMID:25929596
Understanding multicellular function and disease with human tissue-specific networks. PMID:25915600
Development of phenotype algorithms using electronic medical records and incorporating natural language processing. PMID:25911572
Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols. PMID:25884002
Future translational applications from the contemporary genomics era: a scientific statement from the American Heart Association. PMID:25882488
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PMID:25849893
Development and validation of a classification approach for extracting severity automatically from electronic health records. PMID:25848530
Building bridges across electronic health record systems through inferred phenotypic topics. PMID:25841328
Creation and Validation of an EMR-based Algorithm for Identifying Major Adverse Cardiac Events while on Statins. PMID:25717410
EHR-based phenome wide association study in pancreatic cancer. PMID:25717392
Intelligent use and clinical benefits of electronic health records in rheumatoid arthritis. PMID:25660652
Application of clinical text data for phenome-wide association studies (PheWASs). PMID:25657332
Rapid collection of biospecimens by automated identification of patients eligible for pharmacoepigenetic studies. PMID:25562727
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. PMID:25477900
Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study. PMID:25474351
Missing value imputation in high-dimensional phenomic data: imputable or not, and how? PMID:25371041
Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization. PMID:25336590
Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity. PMID:25326128
Phenomics of Vascular Disease: The Systematic Approach to the Combination Therapy. PMID:25313004
Genetic variation in the HLA region is associated with susceptibility to herpes zoster. PMID:25297839
Progress towards the integration of pharmacogenomics in practice. PMID:25238897
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. PMID:25177340
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics. PMID:25123743
"Big data" and the electronic health record. PMID:25123728
Phenome-wide association studies (PheWASs) for functional variants. PMID:25074467
Detecting and Characterizing Pleiotropy: New Methods for Uncovering the Connection Between the Complexity of Genomic Architecture and Multiple phenotypes. PMID:25072629
Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records. PMID:25062868
Validating drug repurposing signals using electronic health records: a case study of metformin associated with reduced cancer mortality. PMID:25053577
Limestone: high-throughput candidate phenotype generation via tensor factorization. PMID:25038555
Size matters: how population size influences genotype-phenotype association studies in anonymized data. PMID:25038554
eMERGEing progress in genomics-the first seven years. PMID:24987407
Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations. PMID:24949630
Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses. PMID:24927737
GWAS in a box: statistical and visual analytics of structured associations via GenAMap. PMID:24905018
Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank. PMID:24896101
The Mid-South clinical Data Research Network. PMID:24821742
Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts. PMID:24808909
R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. PMID:24733291
Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies. PMID:24731735
An electronic medical record-linked biorepository to identify novel biomarkers for atherosclerotic cardiovascular disease. PMID:24689004
Refining gold from existing data. PMID:24625777
Future in psychopathology research. PMID:24562493
A natural language processing algorithm to define a venous thromboembolism phenotype. PMID:24551388
Secondary use of clinical data: the Vanderbilt approach. PMID:24534443
Medication-wide association studies. PMID:24448022
Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. PMID:24385893
Confounding by linkage disequilibrium. PMID:24352001
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. PMID:24349080
Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis. PMID:24323995
Mining the ultimate phenome repository. PMID:24316646
Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank. PMID:24297547
Diagnosis code assignment: models and evaluation metrics. PMID:24296907
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. PMID:24270849
A review of approaches to identifying patient phenotype cohorts using electronic health records. PMID:24201027
Validating a strategy for psychosocial phenotyping using a large corpus of clinical text. PMID:24169276
Automated extraction of clinical traits of multiple sclerosis in electronic medical records. PMID:24148554
The challenges, advantages and future of phenome-wide association studies. PMID:24147732
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. PMID:24026423
Defining a comprehensive verotype using electronic health records for personalized medicine. PMID:24001516
Identifying phenotypic signatures of neuropsychiatric disorders from electronic medical records. PMID:23956017
Describing the relationship between cat bites and human depression using data from an electronic health record. PMID:23936453
Temporal phenome analysis of a large electronic health record cohort enables identification of hospital-acquired complications. PMID:23907284
Ethical and practical challenges to studying patients who opt out of large-scale biorepository research. PMID:23886923
Pleiotropy in complex traits: challenges and strategies. PMID:23752797
A common functional promoter variant links CNR1 gene expression to HDL cholesterol level. PMID:23748922
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. PMID:23743551
Association between low density lipoprotein and rheumatoid arthritis genetic factors with low density lipoprotein levels in rheumatoid arthritis and non-rheumatoid arthritis controls. PMID:23716066
Development and evaluation of an ensemble resource linking medications to their indications. PMID:23576672
External phenome analysis enables a rational federated query strategy to detect changing rates of treatment-related complications associated with multiple myeloma. PMID:23515788
Discovering medical conditions associated with periodontitis using linked electronic health records. PMID:23495669
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. PMID:23463857
Automating the study of population variation of electrocardiographic features. PMID:23463856
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
A PheWAS approach in studying HLA-DRB1*1501. PMID:23392276
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PMID:23382687
Phenome based analysis as a means for discovering context dependent clinical reference ranges. PMID:23304424
An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms. PMID:23304366
Mining the human phenome using semantic web technologies: a case study for Type 2 Diabetes. PMID:23304343
Chapter 13: Mining electronic health records in the genomics era. PMID:23300414
Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank. PMID:23244446
Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls. PMID:23233247
Can genetic pleiotropy replicate common clinical constellations of cardiovascular disease and risk? PMID:23029515
Modeling temporal relationships in large scale clinical associations. PMID:23019240
Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View. PMID:22682510
Genetics and cardiovascular disease: a policy statement from the American Heart Association. PMID:22645291
A general framework for two-stage analysis of genome-wide association studies and its application to case-control studies. PMID:22560088
Translational bioinformatics: linking the molecular world to the clinical world. PMID:22549287
Mining electronic health records: towards better research applications and clinical care. PMID:22549152
Electronic medical records as a tool in clinical pharmacology: opportunities and challenges. PMID:22534870
New models for large prospective studies: is there a better way? PMID:22411865
Naïve Electronic Health Record phenotype identification for Rheumatoid arthritis. PMID:22195070
Predicting clopidogrel response using DNA samples linked to an electronic health record. PMID:22190063
A translational engine at the national scale: informatics for integrating biology and the bedside. PMID:22081225
Abundant pleiotropy in human complex diseases and traits. PMID:22077970
Secure management of biomedical data with cryptographic hardware. PMID:22010157
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. PMID:21981779
CYP4A11 variant is associated with high-density lipoprotein cholesterol in women. PMID:21912424
Using electronic patient records to discover disease correlations and stratify patient cohorts. PMID:21901084
Comparing different scientific approaches to personalized medicine: research ethics and privacy protection. PMID:21892358
The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. PMID:21836165
Exploring and exploiting disease interactions from multi-relational gene and phenotype networks. PMID:21829475
2010 translational bioinformatics year in review. PMID:21672905
A method and knowledge base for automated inference of patient problems from structured data in an electronic medical record. PMID:21613643
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
Charting a course for genomic medicine from base pairs to bedside. PMID:21307933
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. PMID:21269473
Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. PMID:21211616
Generating Clinical Notes for Electronic Health Record Systems. PMID:21031148
Neurocognitive phenotypes and genetic dissection of disorders of brain and behavior. PMID:20955930
An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records. PMID:20688191
Measuring selection in contemporary human populations. PMID:20680024
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies PubMed citations: 161.

161 articles citing: Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis. PMID:34981404
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose. PMID:34954144
Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort. PMID:34552563
Defining Phenotypes from Clinical Data to Drive Genomic Research. PMID:34109303
Identifying developmental stuttering and associated comorbidities in electronic health records and creating a phenome risk classifier. PMID:33894541
Phenotyping coronavirus disease 2019 during a global health pandemic: Lessons learned from the characterization of an early cohort. PMID:33838341
Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding? PMID:33746952
Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation. PMID:33683212
PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records. PMID:32974638
Impact of Diverse Data Sources on Computational Phenotyping. PMID:32582289
Potential positive and negative consequences of ZnT8 inhibition. PMID:32485672
Pancreatic islet beta cell-specific deletion of G6pc2 reduces fasting blood glucose. PMID:32213654
Hypothyroidism and Kidney Function: A Mendelian Randomization Study. PMID:31910748
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network. PMID:31542521
Disease associations depend on visit type: results from a visit-wide association study. PMID:31338127
Advances in Electronic Phenotyping: From Rule-Based Definitions to Machine Learning Models. PMID:31218278
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. PMID:31119199
Accelerating Biomarker Discovery Through Electronic Health Records, Automated Biobanking, and Proteomics. PMID:31047008
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network. PMID:30864329
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. PMID:30827500
Feature extraction for phenotyping from semantic and knowledge resources. PMID:30738949
Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study. PMID:30673084
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. PMID:30673079
Phenome-wide association study identifies dsDNA as a driver of major organ involvement in systemic lupus erythematosus. PMID:30477398
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. PMID:30367059
Genomic and Phenomic Research in the 21st Century. PMID:30342790
Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis. PMID:30284222
Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders. PMID:30248900
Histopathological Image QTL Discovery of Immune Infiltration Variants. PMID:30240647
Development and validation of a heart failure with preserved ejection fraction cohort using electronic medical records. PMID:29954337
Genome-Wide Association Studies of Autoimmune Thyroid Diseases, Thyroid Function, and Thyroid Cancer. PMID:29947174
Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects. PMID:29912272
Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis. PMID:29788924
Phenome-wide association study identifies marked increased in burden of comorbidities in African Americans with systemic lupus erythematosus. PMID:29636090
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Current Scope and Challenges in Phenome-Wide Association Studies. PMID:29545989
Phenome-Wide Association Studies Uncover a Novel Association of Increased Atrial Fibrillation in Male Patients With Systemic Lupus Erythematosus. PMID:29481723
SJS/TEN 2017: Building Multidisciplinary Networks to Drive Science and Translation. PMID:29310768
PIE: A prior knowledge guided integrated likelihood estimation method for bias reduction in association studies using electronic health records data. PMID:29206922
When Enough Is Enough: Decision Criteria for Moving a Known Drug into Clinical Testing for a New Indication in the Absence of Preclinical Efficacy Data. PMID:29193979
The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain. PMID:29038237
Phenotype validation in electronic health records based genetic association studies. PMID:29023970
Genetic effects on gene expression across human tissues. PMID:29022597
FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? PMID:28928994
Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank. PMID:28759005
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PMID:28686612
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. PMID:28602423
The use of electronic health records for psychiatric phenotyping and genomics. PMID:28557243
Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis. PMID:28382505
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. PMID:28379727
Hypothyroidism. PMID:28336049
A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents. PMID:28333968
Phenome-wide association studies: a new method for functional genomics in humans. PMID:28229460
Genome-wide study of resistant hypertension identified from electronic health records. PMID:28222112
Identification of unique venous thromboembolism-susceptibility variants in African-Americans. PMID:28203683
MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus. PMID:28049826
Thyroid transcription factor FOXE1 interacts with ETS factor ELK1 to co-regulate TERT. PMID:27852061
Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records. PMID:27812365
Integration of complex data sources to provide biologic insight into pulmonary vascular disease (2015 Grover Conference Series). PMID:27683602
Surrogate-assisted feature extraction for high-throughput phenotyping. PMID:27632993
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression. PMID:27611587
Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities. PMID:27529678
Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods. PMID:27506131
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PMID:27472449
Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers. PMID:27452794
Developing Electronic Health Record Algorithms That Accurately Identify Patients With Systemic Lupus Erythematosus. PMID:27390187
Phenome-wide association study maps new diseases to the human major histocompatibility complex region. PMID:27287392
Evidence for extensive pleiotropy among pharmacogenes. PMID:27249515
rs965513 polymorphism as a common risk marker is associated with papillary thyroid cancer. PMID:27191655
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. PMID:27147087
Identifying genetically driven clinical phenotypes using linear mixed models. PMID:27109359
Electronic medical record phenotyping using the anchor and learn framework. PMID:27107443
Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis. PMID:27081507
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. PMID:27026615
Translational Bioinformatics: Past, Present, and Future. PMID:26876718
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
Integrating electronic health record genotype and phenotype datasets to transform patient care. PMID:26667791
A multi-institution evaluation of clinical profile anonymization. PMID:26567325
Role of genomics in eliminating health disparities. PMID:26435701
Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer. PMID:26356687
Desiderata for computable representations of electronic health records-driven phenotype algorithms. PMID:26342218
Common Genetic Variants Influence Circulating Vitamin D Levels in Inflammatory Bowel Diseases. PMID:26241000
A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network. PMID:26195183
Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery. PMID:26146598
Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies. PMID:26061293
The effects of electronic medical record phenotyping details on genetic association studies: HDL-C as a case study. PMID:25969697
Extracting research-quality phenotypes from electronic health records to support precision medicine. PMID:25937834
Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources. PMID:25929596
Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population. PMID:25849217
Application of clinical text data for phenome-wide association studies (PheWASs). PMID:25657332
A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. PMID:25652407
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. PMID:25477900
Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. PMID:25436638
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. PMID:25352737
Extraction of echocardiographic data from the electronic medical record is a rapid and efficient method for study of cardiac structure and function. PMID:25276338
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. PMID:25177340
SecureMA: protecting participant privacy in genetic association meta-analysis. PMID:25147357
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics. PMID:25123743
A review of the role of electronic health record in genomic research. PMID:25119857
Phenome-wide association studies (PheWASs) for functional variants. PMID:25074467
Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records. PMID:25062868
Relational machine learning for electronic health record-driven phenotyping. PMID:25048351
Size matters: how population size influences genotype-phenotype association studies in anonymized data. PMID:25038554
eMERGEing progress in genomics-the first seven years. PMID:24987407
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. PMID:24960519
Design patterns for the development of electronic health record-driven phenotype extraction algorithms. PMID:24960203
Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations. PMID:24949630
Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank. PMID:24896101
Disease risk factors identified through shared genetic architecture and electronic medical records. PMID:24786325
Common genetic variants on FOXE1 contributes to thyroid cancer susceptibility: evidence based on 16 studies. PMID:24744143
R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. PMID:24733291
Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans. PMID:24595071
Biobanks and personalized medicine. PMID:24588254
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PMID:24586183
Validation and enhancement of a computable medication indication resource (MEDI) using a large practice-based dataset. PMID:24551419
Secondary use of clinical data: the Vanderbilt approach. PMID:24534443
Quantitative assessment of common genetic variants on FOXE1 and differentiated thyroid cancer risk. PMID:24489898
Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. PMID:24385893
FOXE1 association with differentiated thyroid cancer and its progression. PMID:24325646
Mining the ultimate phenome repository. PMID:24316646
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. PMID:24302669
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. PMID:24270849
The challenges, advantages and future of phenome-wide association studies. PMID:24147732
Database queries for hospitalizations for acute congestive heart failure: flexible methods and validation based on set theory. PMID:24113802
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. PMID:24026423
The new perspectives on genetic studies of type 2 diabetes and thyroid diseases. PMID:23997649
Temporal phenome analysis of a large electronic health record cohort enables identification of hospital-acquired complications. PMID:23907284
Ethical and practical challenges to studying patients who opt out of large-scale biorepository research. PMID:23886923
At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience. PMID:23882410
Applying active learning to high-throughput phenotyping algorithms for electronic health records data. PMID:23851443
Defining and measuring completeness of electronic health records for secondary use. PMID:23820016
Caveats for the use of operational electronic health record data in comparative effectiveness research. PMID:23774517
Pleiotropy in complex traits: challenges and strategies. PMID:23752797
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. PMID:23743551
Detecting and characterizing genomic signatures of positive selection in global populations. PMID:23731540
Development and evaluation of an ensemble resource linking medications to their indications. PMID:23576672
Improving case definition of Crohn's disease and ulcerative colitis in electronic medical records using natural language processing: a novel informatics approach. PMID:23567779
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. PMID:23534349
Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. PMID:23531748
GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. PMID:23529038
Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer. PMID:23520464
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. PMID:23463857
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PMID:23408906
Enabling genomic-phenomic association discovery without sacrificing anonymity. PMID:23405076
A PheWAS approach in studying HLA-DRB1*1501. PMID:23392276
An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms. PMID:23304366
A study of transportability of an existing smoking status detection module across institutions. PMID:23304330
Chapter 13: Mining electronic health records in the genomics era. PMID:23300414
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PMID:23251661
Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank. PMID:23244446
Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls. PMID:23233247
Ethical issues in health research with novel online sources. PMID:23078484
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. PMID:23067351
The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era. PMID:22923055
The role of phenotype in gene discovery in the whole genome sequencing era. PMID:22722752
Associations between autoimmune thyroid disease prognosis and functional polymorphisms of susceptibility genes, CTLA4, PTPN22, CD40, FCRL3, and ZFAT, previously revealed in genome-wide association studies. PMID:22706687
Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View. PMID:22682510
Mining electronic health records: towards better research applications and clinical care. PMID:22549152
Electronic medical records as a tool in clinical pharmacology: opportunities and challenges. PMID:22534870
Novel associations for hypothyroidism include known autoimmune risk loci. PMID:22493691
Portability of an algorithm to identify rheumatoid arthritis in electronic health records. PMID:22374935
The phenotypic legacy of admixture between modern humans and Neandertals PubMed citations: 85.

85 articles citing: The phenotypic legacy of admixture between modern humans and Neandertals

Microorganisms as Shapers of Human Civilization, from Pandemics to Even Our Genomes: Villains or Friends? A Historical Approach. PMID:34946123
Lower promoter activity of the ST8SIA2 gene has been favored in evolving human collective brains. PMID:34914745
Populations, Traits, and Their Spatial Structure in Humans. PMID:34894236
Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. PMID:34662402
Neanderthal-derived genetic variation in living humans relates to schizophrenia diagnosis, to psychotic symptom severity, and to dopamine synthesis. PMID:34487600
Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution? PMID:34422004
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits. PMID:34294692
DLX5/6 GABAergic Expression Affects Social Vocalization: Implications for Human Evolution. PMID:34132815
The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans. PMID:34050022
Our Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture. PMID:34028527
Multi-omic analysis elucidates the genetic basis of hydrocephalus. PMID:33951428
Inferring archaic introgression from hominin genetic data. PMID:33951239
Genomic insights into population history and biological adaptation in Oceania. PMID:33854233
Human genetic admixture. PMID:33705374
Genome-wide ancestry and introgression in a Zambian baboon hybrid zone. PMID:33624366
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals. PMID:33593941
The influence of evolutionary history on human health and disease. PMID:33408383
The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area. PMID:33290510
The Population-Specific Impact of Neandertal Introgression on Human Disease. PMID:33247712
Neanderthal-Derived Genetic Variation is Associated with Functional Connectivity in the Brains of Living Humans. PMID:33218283
Patterns and impacts of nonvertical evolution in eukaryotes: a paradigm shift. PMID:32860228
Fostering Responsible Research on Ancient DNA. PMID:32763189
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations. PMID:32719451
Methods for detecting introgressed archaic sequences. PMID:32717667
Harmonizing hybridization dissonance in conservation. PMID:32694629
Human Stem Cell Resources Are an Inroad to Neandertal DNA Functions. PMID:32559457
Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples. PMID:32451437
Drosophila melanogaster Responses against Entomopathogenic Nematodes: Focus on Hemolymph Clots. PMID:31963772
Functional consequences of archaic introgression and their impact on fitness. PMID:31898502
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases. PMID:31819097
Identification of African-Specific Admixture between Modern and Archaic Humans. PMID:31809748
Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences. PMID:31591491
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation. PMID:31553307
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe. PMID:31517044
Genetics, adaptation to environmental changes and archaic admixture in the pathogenesis of diabetes mellitus in Indigenous Australians. PMID:31278514
Hybridization in human evolution: Insights from other organisms. PMID:31222847
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation. PMID:31155285
A statistical model for reference-free inference of archaic local ancestry. PMID:31136573
Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity? PMID:31030318
Evolution of Hominin Polyunsaturated Fatty Acid Metabolism: From Africa to the New World. PMID:30942856
An evolutionary compass for detecting signals of polygenic selection and mutational bias. PMID:30788143
Making headlines: an analysis of US government-funded cancer research mentioned in online media. PMID:30782941
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. PMID:30774981
Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania. PMID:30651539
Limits of long-term selection against Neandertal introgression. PMID:30647110
Medicine in the Light of Evolution. PMID:30583455
Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity. PMID:30554901
The influence of Neanderthal alleles on cytotoxic response. PMID:30386687
Social Structure Facilitated the Evolution of Care-giving as a Strategy for Disease Control in the Human Lineage. PMID:30262928
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. PMID:30169787
Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes. PMID:30022013
Outstanding questions in the study of archaic hominin admixture. PMID:29852022
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. PMID:29700475
A simulation study investigating power estimates in phenome-wide association studies. PMID:29618318
Model-based detection and analysis of introgressed Neanderthal ancestry in modern humans. PMID:29603507
Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture. PMID:29551270
Patterns of shared signatures of recent positive selection across human populations. PMID:29459708
Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers. PMID:29230810
Ancient oncogenesis, infection and human evolution. PMID:29151852
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans. PMID:28985494
A high-coverage Neandertal genome from Vindija Cave in Croatia. PMID:28982794
Harnessing ancient genomes to study the history of human adaptation. PMID:28890534
Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders. PMID:28733602
Racial Differences in Cancer Susceptibility and Survival: More Than the Color of the Skin? PMID:28718431
The use of electronic health records for psychiatric phenotyping and genomics. PMID:28557243
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. PMID:28490672
Limited genomic consequences of hybridization between two African clawed frogs, Xenopus gilli and X. laevis (Anura: Pipidae). PMID:28439068
Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. PMID:28432340
Functional implications of Neandertal introgression in modern humans. PMID:28366169
Living in an adaptive world: Genomic dissection of the genus Homo and its immune response. PMID:28351985
Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression. PMID:28235201
Phenome-wide association studies: a new method for functional genomics in humans. PMID:28229460
Tracing the peopling of the world through genomics. PMID:28102248
Human evolution: a tale from ancient genomes. PMID:27994125
Archaic Hominin Admixture Facilitated Adaptation to Out-of-Africa Environments. PMID:27839976
Understanding rare and common diseases in the context of human evolution. PMID:27821149
Pathogen-Host Defense in the Evolution of Depression: Insights into Epidemiology, Genetics, Bioregional Differences and Female Preponderance. PMID:27629366
Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children. PMID:27624002
Cross-Phenotype Polygenic Risk Score Analysis of Persistent Post-Concussive Symptoms in U.S. Army Soldiers with Deployment-Acquired Traumatic Brain Injury. PMID:27439997
When our body clocks run late: does it make us depressed? PMID:27275491
Genetic Time Travel. PMID:27183562
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. PMID:27147087
The Genetic Cost of Neanderthal Introgression. PMID:27038113
Evolutionary genetics: Haunted by the past--modern consequences of Neanderthal DNA. PMID:26948814

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