Condel
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Method to assess the outcome of non-synonymous SNVs using a CONsensus DELeteriousness score that combines various tools.
Description
More detailed information about this field from each metasource.
Method to assess the outcome of non-synonymous SNVs using a CONsensus DELeteriousness score that combines various tools.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
Webpage:
http://bbglab.irbbarcelona.org/fannsdb/Webpage
More detailed information about this field from each metasource.
http://bbglab.irbbarcelona.org/fannsdb/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
Publications:
Publications
More detailed information about this field from each metasource.
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
PMID: 21457909
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
Publications
More detailed information about this field from each metasource.
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
PMID: 21457909
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
PubMed citations: 422.
422 articles citing: Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1. PMID:35328531
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases. PMID:35251978
Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients. PMID:35205822
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. PMID:35120630
A common TMPRSS2 variant has a protective effect against severe COVID-19. PMID:35104687
Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion. PMID:34953462
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins. PMID:34938415
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. PMID:34861889
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14. PMID:34848785
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. PMID:34762822
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. PMID:34746235
Plating human iPSC lines on micropatterned substrates reveals role for ITGB1 nsSNV in endoderm formation. PMID:34678211
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients. PMID:34573316
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia. PMID:34572357
Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma. PMID:34571620
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. PMID:34395068
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. PMID:34373545
A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants. PMID:34372920
A domain damage index to prioritizing the pathogenicity of missense variants. PMID:34350656
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
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
The protective effects of the methylenetetrahydrofolate reductase rs1801131 variant among Saudi smokers. PMID:34220254
Identifying Cancer Drivers Using DRIVE: A Feature-Based Machine Learning Model for a Pan-Cancer Assessment of Somatic Missense Mutations. PMID:34205004
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. PMID:34137790
Structure-based Method for Predicting Deleterious Missense SNPs. PMID:34136829
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing. PMID:34045478
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. PMID:33985475
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders. PMID:33841501
Genetic variability in COVID-19-related genes in the Brazilian population. PMID:33824725
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis. PMID:33800365
In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy. PMID:33784504
Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor. PMID:33750001
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome. PMID:33688495
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. PMID:33679884
The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome. PMID:33676930
Making sense of missense variants in TTN-related congenital myopathies. PMID:33449170
Current cancer driver variant predictors learn to recognize driver genes instead of functional variants. PMID:33441128
Molecular dynamics approach to identification of new OGG1 cancer-associated somatic variants with impaired activity. PMID:33361155
Multi-Omics Analysis to Characterize Cigarette Smoke Induced Molecular Alterations in Esophageal Cells. PMID:33251127
Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer. PMID:33233830
Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease. PMID:33219486
Emerging of composition variations of SARS-CoV-2 spike protein and human ACE2 contribute to the level of infection: in silico approaches. PMID:33138699
CSVS, a crowdsourcing database of the Spanish population genetic variability. PMID:32990755
Venetoclax Plus Rituximab in Relapsed Chronic Lymphocytic Leukemia: 4-Year Results and Evaluation of Impact of Genomic Complexity and Gene Mutations From the MURANO Phase III Study. PMID:32986498
Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience. PMID:32913998
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate. PMID:32839463
Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia? PMID:32796235
Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. PMID:32775440
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach. PMID:32704157
Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report. PMID:32375710
Genetic and Immune Changes Associated with Disease Progression under the Pressure of Oncolytic Therapy in A Neuroblastoma Outlier Patient. PMID:32354143
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar. PMID:32313206
In Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene. PMID:32236879
Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants. PMID:32107424
Computational determination of human PPARG gene: SNPs and prediction of their effect on protein functions of diabetic patients. PMID:32064572
Integrated characterisation of cancer genes identifies key molecular biomarkers in stomach adenocarcinoma. PMID:32034058
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. PMID:31976320
Targeted molecular profiling of genetic alterations in colorectal cancer using next-generation sequencing. PMID:31966042
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. PMID:31947757
Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome. PMID:31928344
Deep2Full: Evaluating strategies for selecting the minimal mutational experiments for optimal computational predictions of deep mutational scan outcomes. PMID:31923916
From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB). PMID:31920360
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer. PMID:31822495
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. PMID:31780880
Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. PMID:31693276
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes. PMID:31591475
Insights into pathological mutations in insulin-like growth factor I through in silico screening and molecular dynamics simulation. PMID:31456057
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. PMID:31397093
Rare Angiogenin and Ribonuclease 4 variants associated with amyotrophic lateral sclerosis exhibit loss-of-function: a comprehensive in silico study. PMID:31368019
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. PMID:31317604
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
In silico analysis of missense mutations in exons 1-5 of the F9 gene that cause hemophilia B. PMID:31253089
Integration of Random Forest Classifiers and Deep Convolutional Neural Networks for Classification and Biomolecular Modeling of Cancer Driver Mutations. PMID:31245384
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. PMID:31234783
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. PMID:31227763
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. PMID:31200731
Evolutionary coupling analysis identifies the impact of disease-associated variants at less-conserved sites. PMID:31199866
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel. PMID:31138263
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. PMID:31088393
Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in polycystic ovary syndrome. PMID:31038695
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). PMID:31015822
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. PMID:31001185
Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated? PMID:30995449
Human collectin-11 (COLEC11) and its synergic genetic interaction with MASP2 are associated with the pathophysiology of Chagas Disease. PMID:30995222
Computational algorithms for in silico profiling of activating mutations in cancer. PMID:30982079
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis. PMID:30976013
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. PMID:30967900
Heterozygous rare genetic variants in non-syndromic early-onset obesity. PMID:30926952
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. PMID:30872718
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors. PMID:30784590
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations. PMID:30735520
Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine. PMID:30730459
Integrative analysis of cancer driver genes in prostate adenocarcinoma. PMID:30720096
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. PMID:30706156
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. PMID:30705665
Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data. PMID:30564131
Coevolving residues inform protein dynamics profiles and disease susceptibility of nSNVs. PMID:30496278
Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis. PMID:30452647
Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population. PMID:30388713
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms. PMID:30325262
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. PMID:30275001
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. PMID:30220433
Differences in clinical characteristics and mutational pattern between synchronous and metachronous colorectal liver metastases. PMID:30214282
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PMID:30157172
Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants. PMID:30139765
Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing. PMID:30056620
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders. PMID:30019023
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. PMID:30013592
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. PMID:29884841
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. PMID:29874871
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes. PMID:29861492
Double hits in schizophrenia. PMID:29767709
Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family. PMID:29762926
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. PMID:29670885
IRS2 mutations linked to invasion in pleomorphic invasive lobular carcinoma. PMID:29669935
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis. PMID:29662108
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. PMID:29644724
Structural dynamics is a determinant of the functional significance of missense variants. PMID:29610305
Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient. PMID:29593791
IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. PMID:29581779
Poly ADP-ribose polymerase-1 as a potential therapeutic target in Merkel cell carcinoma. PMID:29570891
Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies. PMID:29538399
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing. PMID:29503567
Rare Variants in Tissue Inhibitor of Metalloproteinase 2 as a Risk Factor for Schizophrenia: Evidence From Familial and Cohort Analysis. PMID:29385606
Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database. PMID:29382827
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs. PMID:29316957
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. PMID:29228333
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. PMID:29224215
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. PMID:29205322
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29179779
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. PMID:29161432
TITINdb-a computational tool to assess titin's role as a disease gene. PMID:29077808
Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. PMID:28978154
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. PMID:28968992
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. PMID:28864458
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. PMID:28832562
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. PMID:28829762
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence. PMID:28812538
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. PMID:28812535
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. PMID:28739660
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. PMID:28663568
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. PMID:28611029
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. PMID:28570636
In silico analyses of deleterious missense SNPs of human apolipoprotein E3. PMID:28559539
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. PMID:28544481
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. PMID:28544272
Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy. PMID:28518218
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
Bioinformatics in translational drug discovery. PMID:28487472
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PMID:28472130
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. PMID:28453649
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. PMID:28418496
Search for rare protein altering variants influencing susceptibility to multiple myeloma. PMID:28404951
Impact of genetic variation on three dimensional structure and function of proteins. PMID:28296894
Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia. PMID:28242106
Gene-based segregation method for identifying rare variants in family-based sequencing studies. PMID:28191685
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. PMID:28180317
Global inference of disease-causing single nucleotide variants from exome sequencing data. PMID:28155632
The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. PMID:28147343
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing. PMID:28044414
PERCH: A Unified Framework for Disease Gene Prioritization. PMID:27995669
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. PMID:27993330
Characterization of ADME gene variation in 21 populations by exome sequencing. PMID:27984508
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. PMID:27966545
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. PMID:27939289
Alpha Helices Are More Robust to Mutations than Beta Strands. PMID:27935949
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. PMID:27925158
Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease. PMID:27900366
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. PMID:27764769
Convert your favorite protein modeling program into a mutation predictor: "MODICT". PMID:27760515
Prospective functional classification of all possible missense variants in PPARG. PMID:27749844
Genome Sequence Variability Predicts Drug Precautions and Withdrawals from the Market. PMID:27690231
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive. PMID:27639823
Unsupervised detection of cancer driver mutations with parsimony-guided learning. PMID:27618449
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. PMID:27539938
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. PMID:27535030
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. PMID:27527004
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. PMID:27469131
Computational assessment of feature combinations for pathogenic variant prediction. PMID:27468419
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. PMID:27466187
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. PMID:27443559
Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders. PMID:27404287
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. PMID:27373512
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily. PMID:27357839
MUFFINN: cancer gene discovery via network analysis of somatic mutation data. PMID:27333808
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. PMID:27329137
Medical genomics: The intricate path from genetic variant identification to clinical interpretation. PMID:27284505
Predicting regulatory variants with composite statistic. PMID:27273672
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis. PMID:27248819
Reproducible pharmacogenomic profiling of cancer cell line panels. PMID:27193678
Computational approaches for predicting mutant protein stability. PMID:27160393
The degree of intratumor mutational heterogeneity varies by primary tumor sub-site. PMID:27034009
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. PMID:27017610
Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use. PMID:26992226
ENTPRISE: An Algorithm for Predicting Human Disease-Associated Amino Acid Substitutions from Sequence Entropy and Predicted Protein Structures. PMID:26982818
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. PMID:26980296
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. PMID:26938784
Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. PMID:26928227
Robust classification of protein variation using structural modelling and large-scale data integration. PMID:26926108
Progress in methods for rare variant association. PMID:26866487
The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response. PMID:26863566
Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. PMID:26852919
Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair. PMID:26848151
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group. PMID:26788538
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. PMID:26761715
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. PMID:26755827
Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease. PMID:26736064
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. PMID:26716990
Dintor: functional annotation of genomic and proteomic data. PMID:26691694
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. PMID:26657938
Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations. PMID:26627007
Intra-tumor heterogeneity in TP53 null High Grade Serous Ovarian Carcinoma progression. PMID:26620706
Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia. PMID:26544893
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. PMID:26522472
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. PMID:26494363
GREM1 and POLE variants in hereditary colorectal cancer syndromes. PMID:26493165
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data. PMID:26459872
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PMID:26448358
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). PMID:26442818
Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways. PMID:26442106
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. PMID:26376624
Computational approaches to study the effects of small genomic variations. PMID:26350246
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. PMID:26350204
A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells. PMID:26345285
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PMID:26332594
Patterns of CTCF and ZFHX3 Mutation and Associated Outcomes in Endometrial Cancer. PMID:26330387
Advances in computational approaches for prioritizing driver mutations and significantly mutated genes in cancer genomes. PMID:26307061
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. PMID:26283626
Comparison of predicted and actual consequences of missense mutations. PMID:26269570
Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis. PMID:26264438
Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma. PMID:26262956
Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. PMID:26239294
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PMID:26230511
Cpipe: a shared variant detection pipeline designed for diagnostic settings. PMID:26217397
VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. PMID:26210358
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. PMID:26206890
GESPA: classifying nsSNPs to predict disease association. PMID:26206375
Genome-wide burden of deleterious coding variants increased in schizophrenia. PMID:26158538
An improved understanding of cancer genomics through massively parallel sequencing. PMID:26146607
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. PMID:26133394
Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations. PMID:26124090
Computational methods and resources for the interpretation of genomic variants in cancer. PMID:26111056
Better prediction of functional effects for sequence variants. PMID:26110438
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. PMID:26106619
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. PMID:26077881
Functional and in silico assessment of MAX variants of unknown significance. PMID:26070438
The road from next-generation sequencing to personalized medicine. PMID:26000024
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. PMID:25969726
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. PMID:25958000
The Phyre2 web portal for protein modeling, prediction and analysis. PMID:25950237
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. PMID:25948282
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. PMID:25942481
PaPI: pseudo amino acid composition to score human protein-coding variants. PMID:25928477
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. PMID:25910913
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. PMID:25898925
A decision support framework for genomically informed investigational cancer therapy. PMID:25863335
miRGate: a curated database of human, mouse and rat miRNA-mRNA targets. PMID:25858286
Alström Syndrome: Mutation Spectrum of ALMS1. PMID:25846608
Insight into neutral and disease-associated human genetic variants through interpretable predictors. PMID:25826299
Exome analysis reveals differentially mutated gene signatures of stage, grade and subtype in breast cancers. PMID:25803781
Variability in pathogenicity prediction programs: impact on clinical diagnostics. PMID:25802880
Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. PMID:25799584
Analysis of genetic variation and potential applications in genome-scale metabolic modeling. PMID:25763369
Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma. PMID:25759019
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa. PMID:25753737
Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. PMID:25743105
Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone. PMID:25701875
A novel mutation in IL36RN underpins childhood pustular dermatosis. PMID:25688670
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. PMID:25658757
PON-P2: prediction method for fast and reliable identification of harmful variants. PMID:25647319
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PMID:25625282
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer. PMID:25576241
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. PMID:25552646
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. PMID:25525159
Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data. PMID:25519417
Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation. PMID:25519362
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. PMID:25503501
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. PMID:25502226
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data. PMID:25496518
A comprehensive transcriptional portrait of human cancer cell lines. PMID:25485619
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer. PMID:25444907
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. PMID:25401301
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. PMID:25394176
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. PMID:25394172
Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions. PMID:25392414
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment. PMID:25386756
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. PMID:25351510
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. PMID:25348012
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. PMID:25272002
The role of the interactome in the maintenance of deleterious variability in human populations. PMID:25261458
Catalytic mTOR inhibitors can overcome intrinsic and acquired resistance to allosteric mTOR inhibitors. PMID:25261369
Single nucleotide variations: biological impact and theoretical interpretation. PMID:25234433
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. PMID:25225577
MICO: A meta-tool for prediction of the effects of non-synonymous mutations. PMID:25187690
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. PMID:25157153
Heterogeneity in the inter-tumor transcriptome of high risk prostate cancer. PMID:25155515
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study. PMID:25147555
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PMID:25136813
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. PMID:25133958
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PMID:25133613
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. PMID:25119684
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. PMID:25098561
Systematic identification and characterization of RNA editing in prostate tumors. PMID:25036877
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. PMID:25015100
Expanding the computational toolbox for mining cancer genomes. PMID:25001846
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. PMID:24967631
EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome. PMID:24916671
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. PMID:24890387
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families. PMID:24879641
Exome sequencing reveals a potential mutational trajectory and treatments for a specific pancreatic cancer patient. PMID:24833909
Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications. PMID:24832006
Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma. PMID:24823478
SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features. PMID:24810707
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer. PMID:24807215
SDS, a structural disruption score for assessment of missense variant deleteriousness. PMID:24795746
Determining effects of non-synonymous SNPs on protein-protein interactions using supervised and semi-supervised learning. PMID:24784581
Standardized decision support in next generation sequencing reports of somatic cancer variants. PMID:24768039
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. PMID:24755953
Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. PMID:24712574
Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery. PMID:24705330
Genetic analysis, in silico prediction, and family segregation in long QT syndrome. PMID:24667783
Low budget analysis of Direct-To-Consumer genomic testing familial data. PMID:24627758
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. PMID:24498611
A general framework for estimating the relative pathogenicity of human genetic variants. PMID:24487276
Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer. PMID:24465539
CGtag: complete genomics toolkit and annotation in a cloud-based Galaxy. PMID:24460651
PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PMID:24453961
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. PMID:24451234
Integrated analysis of germline and somatic variants in ovarian cancer. PMID:24448499
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration. PMID:24426771
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. PMID:24423288
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PMID:24348229
Feature-based classification of amino acid substitutions outside conserved functional protein domains. PMID:24348198
wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases. PMID:24289158
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. PMID:24282029
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. PMID:24280991
VarRanker: rapid prioritization of sequence variations associated with human disease. PMID:24268183
DriverDB: an exome sequencing database for cancer driver gene identification. PMID:24214964
CanDrA: cancer-specific driver missense mutation annotation with optimized features. PMID:24205039
Next-generation sequencing for mitochondrial disorders. PMID:24138576
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PMID:24009516
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP. PMID:23935863
A gene-specific method for predicting hemophilia-causing point mutations. PMID:23920358
Computational approaches to identify functional genetic variants in cancer genomes. PMID:23900255
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. PMID:23864330
The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations. PMID:23819919
Collective judgment predicts disease-associated single nucleotide variants. PMID:23819846
Revealing selection in cancer using the predicted functional impact of cancer mutations. Application to nomination of cancer drivers. PMID:23819556
Assessment of computational methods for predicting the effects of missense mutations in human cancers. PMID:23819521
Genetic variations and associated pathophysiology in the management of epilepsy. PMID:23776372
The power of meta-analysis in genome-wide association studies. PMID:23724904
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. PMID:23690449
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. PMID:23687434
Functional and structural analysis of C-terminal BRCA1 missense variants. PMID:23613828
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. PMID:23502782
Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants. PMID:23462317
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. PMID:23418020
Functional consequences of a novel variant of PCSK1. PMID:23383060
Next-generation sequencing in understanding complex neurological disease. PMID:23368808
Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PMID:23341771
A survey of tools for variant analysis of next-generation genome sequencing data. PMID:23341494
Understanding human glycosylation disorders: biochemistry leads the charge. PMID:23329837
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. PMID:23329068
HGV2012: leveraging next-generation technology and large datasets to advance disease research. PMID:23315969
Mutations in HNF1A result in marked alterations of plasma glycan profile. PMID:23274891
A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding. PMID:23251400
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. PMID:23222849
Clinical and genetic features in Italian Bietti crystalline dystrophy patients. PMID:23221965
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. PMID:23217326
Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. PMID:23181723
Soluble CD14: genomewide association analysis and relationship to cardiovascular risk and mortality in older adults. PMID:23162014
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PMID:23139751
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. PMID:23103231
Predicting the functional effect of amino acid substitutions and indels. PMID:23056405
Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining. PMID:23055974
A novel missense-mutation-related feature extraction scheme for 'driver' mutation identification. PMID:23044540
A calibrated human Y-chromosomal phylogeny based on resequencing. PMID:23038768
Comprehensive molecular portraits of human breast tumours. PMID:23000897
Inferring causality and functional significance of human coding DNA variants. PMID:22990389
PARADIGM-SHIFT predicts the function of mutations in multiple cancers using pathway impact analysis. PMID:22962493
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. PMID:22949429
Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. PMID:22941189
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. PMID:22939635
Evolutionary diagnosis method for variants in personal exomes. PMID:22936163
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. PMID:22863181
Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome. PMID:22855651
Whole-genome and whole-exome sequencing in neurological diseases. PMID:22847385
Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics. PMID:22839973
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. PMID:22801960
Population-based variation in cardiomyopathy genes. PMID:22763267
Prioritization of pathogenic mutations in the protein kinase superfamily. PMID:22759651
Applying next-generation sequencing to pancreatic cancer treatment. PMID:22751458
Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations. PMID:22685075
Human genomic disease variants: a neutral evolutionary explanation. PMID:22665443
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting. PMID:22640420
Finding genes and variants for lipid levels after genome-wide association analysis. PMID:22418572
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. PMID:22401137
A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers. PMID:22362584
Taxonomizing, sizing, and overcoming the incidentalome. PMID:22323072
A combined functional annotation score for non-synonymous variants. PMID:22261837
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. PMID:22241780
Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. PMID:22147369
Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants. PMID:22037892
Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. PMID:21764165
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genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
dna mutation
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version: extracted_at: 2022-11-04T11:30:42.898645
gene and protein families
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version: extracted_at: 2022-11-04T11:30:42.898645
statistics and probability
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
rare diseases
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Tags
More detailed information about this field from each metasource.
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
dna mutation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
gene and protein families
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
statistics and probability
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
genetic variation dna mutation gene and protein families statistics and probability rare diseases
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