ClinGen

Names
More detailed information about this field from each metasource.

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

Clinical Genome Resource
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Other names: Clinical Genome Resource

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for usein precision medicine and research. It contains curated gene information related to clinical setting grouped into the following sections: Gene Disease Validity, Dosage Sensitivity, Clinical Actionability, Variant Pathogenity and Pharmacogenomics.

Webpage:

https://clinicalgenome.org

Licence:

Name: Creative Commons Universal v1.0 - no copyright
URL: https://clinicalgenome.org/docs/terms-of-use/

Publications: (14)

Publications
More detailed information about this field from each metasource.

ClinGen--the Clinical Genome Resource
PMID: 26014595
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

ClinVar at five years: Delivering on the promise
PMID: 30311387
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Using ClinVar as a Resource to Support Variant Interpretation
PMID: 27037489
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Somatic cancer variant curation and harmonization through consensus minimum variant level data
PMID: 27814769
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Characterizing genetic variants for clinical action
PMID: 24634402
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
PMID: 29790234
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
PMID: 29437798
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard
PMID: 27579472
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

ClinGen's GenomeConnect registry enables patient-centered data sharing
PMID: 30311371
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

ClinGen advancing genomic data-sharing standards as a GA4GH driver project
PMID: 30311379
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Development of a consent resource for genomic data sharing in the clinical setting
PMID: 29899502
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
PMID: 25152847
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

https://www.nejm.org/doi/10.1056/NEJMsr1406261
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129219/
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

ClinGen--the Clinical Genome Resource PubMed citations: 378.

378 articles citing: ClinGen--the Clinical Genome Resource

Filamin A Is a Potential Driver of Breast Cancer Metastasis via Regulation of MMP-1. PMID:35359350
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. PMID:35328109
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. PMID:35288587
Understanding genetic variants of uncertain significance. PMID:35273666
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. PMID:35246524
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. PMID:35182233
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. PMID:35176222
CCR8-targeted specific depletion of clonally expanded Treg cells in tumor tissues evokes potent tumor immunity with long-lasting memory. PMID:35140181
Development of an Open Database of Genes Included in Hereditary Cancer Genetic Testing Panels Available From Major Sources in the US. PMID:35113133
Leveraging gene co-regulation to identify gene sets enriched for disease heritability. PMID:35108496
GA4GH: International policies and standards for data sharing across genomic research and healthcare. PMID:35072136
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population. PMID:35052786
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. PMID:35039090
Automated prediction of the clinical impact of structural copy number variations. PMID:35017614
Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients. PMID:34946792
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. PMID:34805717
The Human Disease Ontology 2022 update. PMID:34755882
Gene4HL: An Integrated Genetic Database for Hearing Loss. PMID:34733322
Disease variant prediction with deep generative models of evolutionary data. PMID:34707284
Lethal variants in humans: lessons learned from a large molecular autopsy cohort. PMID:34645488
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs. PMID:34615484
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy. PMID:34598319
Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. PMID:34572044
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. PMID:34547244
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy. PMID:34537872
Clinical translation of hidradenitis suppurativa genetic studies requires global collaboration. PMID:34498254
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes. PMID:34495297
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
X-CNV: genome-wide prediction of the pathogenicity of copy number variations. PMID:34407882
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project. PMID:34384894
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants. PMID:34360596
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome. PMID:34356064
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients. PMID:34356041
Decoding disease: from genomes to networks to phenotypes. PMID:34341555
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. PMID:34324492
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. PMID:34291353
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). PMID:34285390
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature. PMID:34177432
Modulation of the effects of class Ib antiarrhythmics on cardiac NaV1.5-encoded channels by accessory NaVβ subunits. PMID:34156986
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. PMID:34141003
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. PMID:34108472
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. PMID:34023905
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. PMID:34019647
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry. PMID:34007001
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. PMID:33990640
The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy. PMID:33983834
Infobuttons for Genomic Medicine: Requirements and Barriers. PMID:33979874
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Disease Spectrum of Breast Cancer Susceptibility Genes. PMID:33959510
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. PMID:33947203
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. PMID:33932343
Application of a framework to guide genetic testing communication across clinical indications. PMID:33926532
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. PMID:33875564
Genetic Basis of Type IV Collagen Disorders of the Kidney. PMID:33849932
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. PMID:33798442
Precision Population Medicine in Primary Care: The Sanford Chip Experience. PMID:33777099
All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders. PMID:33773394
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm. PMID:33761318
ATAV: a comprehensive platform for population-scale genomic analyses. PMID:33757430
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. PMID:33740458
Swiss-PO: a new tool to analyze the impact of mutations on protein three-dimensional structures for precision oncology. PMID:33737716
Genetic Testing in Neurodevelopmental Disorders. PMID:33681094
Inherited Kidney Complement Diseases. PMID:33536243
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis. PMID:33477601
Role of Clinical Genetic Testing in the Management of Aortopathies. PMID:33475873
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
An ensemble learning approach for modeling the systems biology of drug-induced injury. PMID:33435983
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. PMID:33432820
Strategies to Identify Genetic Variants Causing Infertility. PMID:33431240
Mitochondrial diseases: expanding the diagnosis in the era of genetic testing. PMID:33426505
Family history assessment significantly enhances delivery of precision medicine in the genomics era. PMID:33413596
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases. PMID:33368787
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. PMID:33346580
Advances in germline predisposition to acute leukaemias and myeloid neoplasms. PMID:33328584
'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension. PMID:33256119
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China. PMID:33240328
ClassifyCNV: a tool for clinical annotation of copy-number variants. PMID:33230148
The UCSC Genome Browser database: 2021 update. PMID:33221922
Moving targets in drug discovery. PMID:33214619
Genenames.org: the HGNC and VGNC resources in 2021. PMID:33152070
The role of genomics and genetics in pulmonary arterial hypertension. PMID:33150157
Strategic vision for improving human health at The Forefront of Genomics. PMID:33116284
Mutations primarily alter the inclusion of alternatively spliced exons. PMID:33112234
Considering complexity in the genetic evaluation of dilated cardiomyopathy. PMID:33109712
Discover novel disease-associated genes based on regulatory networks of long-range chromatin interactions. PMID:33096239
2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. PMID:33091602
A secure system for genomics clinical decision support. PMID:33080397
Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy. PMID:33040239
Modulating gene regulation to treat genetic disorders. PMID:33020616
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. PMID:33001864
A comprehensive analysis of RHOA mutation positive and negative angioimmunoblastic T-cell lymphomas by targeted deep sequencing, expression profiling and single cell digital image analysis. PMID:32945366
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Translating Embryogenesis to Generate Organoids: Novel Approaches to Personalized Medicine. PMID:32864586
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients. PMID:32815737
Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example. PMID:32760473
Genetic testing for kidney disease of unknown etiology. PMID:32739203
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. PMID:32733828
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy. PMID:32732227
Landscape of cohesin-mediated chromatin loops in the human genome. PMID:32728247
Integration of Genomic Medicine in Pathology Resident Training. PMID:32696061
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers. PMID:32675277
Unified inference of missense variant effects and gene constraints in the human genome. PMID:32667917
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. PMID:32659782
Clinical Genetic Screening in Adult Patients with Kidney Disease. PMID:32646915
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. PMID:32582378
Natural Selection Shapes Codon Usage in the Human Genome. PMID:32516569
Evaluating drug targets through human loss-of-function genetic variation. PMID:32461653
A structural variation reference for medical and population genetics. PMID:32461652
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. PMID:32461613
Pediatric Primary Dilated Cardiomyopathy Gene Testing and Variant Reclassification: Does It Matter? PMID:32458723
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. PMID:32439973
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. PMID:32389220
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions. PMID:32383249
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. PMID:32355288
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. PMID:32349224
From Genetics to Genomics: Facing the Liability Implications in Clinical Care. PMID:32342786
Predicting target genes of non-coding regulatory variants with IRT. PMID:32330225
Role of Genetic Variations in the Hepatic Handling of Drugs. PMID:32326111
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. PMID:32321736
A framework for an evidence-based gene list relevant to autism spectrum disorder. PMID:32317787
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? PMID:32306808
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. PMID:32246132
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies. PMID:32165484
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. PMID:32160020
Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers. PMID:32127026
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. PMID:32048431
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. PMID:31996704
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. PMID:31983240
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. PMID:31981491
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. PMID:31942019
Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration. PMID:31930186
A brief history of human disease genetics. PMID:31915397
Clinical and genetic evaluation after sudden cardiac arrest. PMID:31909521
LitGen: Genetic Literature Recommendation Guided by Human Explanations. PMID:31797587
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. PMID:31754268
Ranking of non-coding pathogenic variants and putative essential regions of the human genome. PMID:31748530
Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network. PMID:31737042
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. PMID:31727422
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:31701156
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). PMID:31690835
The DisGeNET knowledge platform for disease genomics: 2019 update. PMID:31680165
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. PMID:31648317
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). PMID:31645350
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. PMID:31589614
The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later. PMID:31562822
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records. PMID:31508243
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. PMID:31479589
Patients' views on variants of uncertain significance across indications. PMID:31432391
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. PMID:31417602
Building evidence and measuring clinical outcomes for genomic medicine. PMID:31395443
Implementation of genomics in medical practice to deliver precision medicine for an Asian population. PMID:31231544
First Responder to Genomic Information: A Guide for Primary Care Providers. PMID:31172371
Mind the gap: resources required to receive, process and interpret research-returned whole genome data. PMID:31161416
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. PMID:31131967
Points-to-consider on the return of results in epigenetic research. PMID:31122281
Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning. PMID:31094361
Dilated cardiomyopathy. PMID:31073128
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. PMID:31064749
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. PMID:31044088
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders. PMID:31037860
Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders. PMID:31028355
The Evolving Landscape of Cancer Stem Cells and Ways to Overcome Cancer Heterogeneity. PMID:31013960
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar. PMID:30937429
Haploinsufficiency of ARHGAP42 is associated with hypertension. PMID:30903111
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach. PMID:30900393
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. PMID:30894701
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. PMID:30887117
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. PMID:30850667
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease. PMID:30842500
A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. PMID:30797065
Toward automation of germline variant curation in clinical cancer genetics. PMID:30787465
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. PMID:30681346
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. PMID:30676620
Genetic and environmental risk factors for chronic kidney disease. PMID:30675423
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement. PMID:30670879
The utility of phenomics in diagnosis of inherited metabolic disorders. PMID:30651242
Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement. PMID:30640517
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea. PMID:30623622
Constructing a database for the relations between CNV and human genetic diseases via systematic text mining. PMID:30598077
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. PMID:30583724
A quantitative framework for characterizing the evolutionary history of mammalian gene expression. PMID:30552105
Knowledge base toward understanding actionable alterations and realizing precision oncology. PMID:30542800
Genetic testing in sudden infant death - a wolf in sheep's clothing? PMID:30535905
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield. PMID:30531895
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. PMID:30523343
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. PMID:30504931
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome. PMID:30504929
OMIM.org: leveraging knowledge across phenotype-gene relationships. PMID:30445645
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. PMID:30392543
MAGUS: A Shared Tool for the Genetic Community. PMID:30354584
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. PMID:30352134
Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project. PMID:30312480
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. PMID:30311390
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. PMID:30311389
Updated recommendation for the benign stand-alone ACMG/AMP criterion. PMID:30311383
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. PMID:30311381
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. PMID:30311380
ClinGen advancing genomic data-sharing standards as a GA4GH driver project. PMID:30311379
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. PMID:30311378
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. PMID:30311377
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. PMID:30311375
ClinGen's GenomeConnect registry enables patient-centered data sharing. PMID:30311371
Genenames.org: the HGNC and VGNC resources in 2019. PMID:30304474
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. PMID:30270359
The ASH Agenda for Hematology Research: a roadmap for advancing scientific discovery and cures for hematologic diseases. PMID:30266817
Reduced intrinsic DNA curvature leads to increased mutation rate. PMID:30217230
Accurate classification of BRCA1 variants with saturation genome editing. PMID:30209399
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. PMID:30209273
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. PMID:30199403
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. PMID:30181607
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. PMID:30095857
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. PMID:30095202
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. PMID:30089825
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. PMID:30071989
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health. PMID:30071015
IRF2BPL Is Associated with Neurological Phenotypes. PMID:30057031
Computational Prediction of Position Effects of Human Chromosome Rearrangements. PMID:30038699
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. PMID:29988079
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. PMID:29959160
Development of a consent resource for genomic data sharing in the clinical setting. PMID:29899502
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies. PMID:29895856
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. PMID:29892087
Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons. PMID:29888091
Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research. PMID:29888062
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. PMID:29875424
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. PMID:29807392
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. PMID:29790234
The Ancestral Pace of Variant Reclassification. PMID:29757403
Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States. PMID:29750248
Genomics and electronic health record systems. PMID:29741693
Precision Medicine: From Science To Value. PMID:29733705
Robust genomic copy number predictor of pan cancer metastasis. PMID:29725504
Identification of Misclassified ClinVar Variants via Disease Population Prevalence. PMID:29625023
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
Biomedical informatics and machine learning for clinical genomics. PMID:29566172
The ACMG/AMP reputable source criteria for the interpretation of sequence variants. PMID:29543229
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. PMID:29493581
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. PMID:29473246
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. PMID:29441128
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar. PMID:29437798
A literature review at genome scale: improving clinical variant assessment. PMID:29388949
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. PMID:29369293
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. PMID:29300372
Genetic basis of human congenital anomalies of the kidney and urinary tract. PMID:29293093
eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751
Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. PMID:29240077
Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. PMID:29237686
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification. PMID:29234989
ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. PMID:29218886
The Encyclopedia of DNA elements (ENCODE): data portal update. PMID:29126249
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. PMID:29095811
A SNP panel and online tool for checking genotype concordance through comparing QR codes. PMID:28926565
Genomic medicine and data sharing. PMID:28910995
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. PMID:28902675
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. PMID:28895531
Variant Interpretation: Functional Assays to the Rescue. PMID:28886340
Genetic Testing in a Cohort of Complex Esophageal Atresia. PMID:28878607
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. PMID:28864458
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. PMID:28861920
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. PMID:28825726
Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians. PMID:28812208
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system. PMID:28796238
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. PMID:28782058
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. PMID:28771248
DNA methylation profiles in cancer diagnosis and therapeutics. PMID:28752221
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. PMID:28735859
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). PMID:28726806
A new era in the interpretation of human genomic variation. PMID:28703787
Germline genetic variants in men with prostate cancer and one or more additional cancers. PMID:28657667
Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators. PMID:28649453
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. PMID:28603714
Sources of discordance among germ-line variant classifications in ClinVar. PMID:28569743
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. PMID:28552198
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. PMID:28492532
When "N of 2" is not enough: integrating statistical and functional data in gene discovery. PMID:28487880
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. PMID:28425981
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. PMID:28408614
Moving beyond Bermuda: sharing data to build a medical information commons. PMID:28373484
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. PMID:28301460
Autism genetics: opportunities and challenges for clinical translation. PMID:28260791
Big Data Analytics for Genomic Medicine. PMID:28212287
The current state of clinical interpretation of sequence variants. PMID:28157586
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer. PMID:28138153
Evolving health care through personal genomics. PMID:28138143
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
A comprehensive global genotype-phenotype database for rare diseases. PMID:28116331
Newborn Sequencing in Genomic Medicine and Public Health. PMID:28096516
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. PMID:28082330
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. PMID:28081714
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing. PMID:28079899
Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics. PMID:28055021
Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities. PMID:27993174
Increased burden of deleterious variants in essential genes in autism spectrum disorder. PMID:27956632
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records. PMID:27930734
The Application of Genomics in Diabetes: Barriers to Discovery and Implementation. PMID:27926887
The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data. PMID:27899644
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
The Human Phenotype Ontology in 2017. PMID:27899602
The future of clinical cancer genomics. PMID:27899195
DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES. PMID:27896972
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. PMID:27861786
Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies. PMID:27858254
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. PMID:27854360
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. PMID:27840696
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. PMID:27831900
Somatic cancer variant curation and harmonization through consensus minimum variant level data. PMID:27814769
Integrating cancer genomic data into electronic health records. PMID:27784327
Genomic sequencing in clinical practice: applications, challenges, and opportunities. PMID:27757064
Precision medicine in pediatric oncology: Lessons learned and next steps. PMID:27748023
Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More? PMID:27672637
A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research. PMID:27655359
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. PMID:27621404
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard. PMID:27579472
Exploring the importance of case-level clinical information for variant interpretation. PMID:27561084
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. PMID:27538589
Towards precision medicine. PMID:27528417
Clinical Interpretation of Genomic Variations. PMID:27507302
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. PMID:27504451
Animal-Free Chemical Safety Assessment. PMID:27493630
Health Care Infrastructure for Financially Sustainable Clinical Genomics. PMID:27471182
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). PMID:27441996
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. PMID:27437054
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. PMID:27388938
Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. PMID:27362341
Taming the genome: towards better genetic test interpretation. PMID:27324065
Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine. PMID:27195526
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. PMID:27181684
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. PMID:27181682
Recommendations for the integration of genomics into clinical practice. PMID:27171546
Facilitating a culture of responsible and effective sharing of cancer genome data. PMID:27149219
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. PMID:27148591
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. PMID:27124788
Defining actionable mutations for oncology therapeutic development. PMID:27112209
An informatics research agenda to support precision medicine: seven key areas. PMID:27107452
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children. PMID:27104957
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. PMID:27083775
Interdisciplinary training to build an informatics workforce for precision medicine. PMID:27054076
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC). PMID:27026620
Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium. PMID:27023617
CUSTOM-SEQ: a prototype for oncology rapid learning in a comprehensive EHR environment. PMID:27008846
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors. PMID:26997941
Health and population effects of rare gene knockouts in adult humans with related parents. PMID:26940866
Arrhythmias: Opening Pandora's Box -- incidental genetic findings. PMID:26935036
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine. PMID:26931283
Effective quality management practices in routine clinical next-generation sequencing. PMID:26872315
The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers. PMID:26828522
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes. PMID:26818556
Toward clinical genomics in everyday medicine: perspectives and recommendations. PMID:26810587
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. PMID:26805890
Consent Codes: Upholding Standard Data Use Conditions. PMID:26796797
REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY. PMID:26776189
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. PMID:26746457
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. PMID:26740553
Integrating electronic health record genotype and phenotype datasets to transform patient care. PMID:26667791
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. PMID:26656649
The UCSC Genome Browser database: 2016 update. PMID:26590259
Acquisition, Analysis, and Sharing of Data in 2015 and Beyond: A Survey of the Landscape: A Conference Report From the American Heart Association Data Summit 2015. PMID:26541391
The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy. PMID:26518443
Bias in CFTR screening panels. PMID:26513347
Pharmacogenomics in the clinic. PMID:26469045
Building the foundation for genomics in precision medicine. PMID:26469044
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup. PMID:26418054
Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. PMID:26371191
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. PMID:26289954
Genetic, environmental, and epigenetic factors involved in CAKUT. PMID:26281895
So rare we need to hunt for them: reframing the ethical debate on incidental findings. PMID:26229554
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. PMID:26178529
ClinVar at five years: Delivering on the promise PubMed citations: 59.

59 articles citing: ClinVar at five years: Delivering on the promise

Time to make rare disease diagnosis accessible to all. PMID:35132266
Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia. PMID:35121960
Decoding the effects of synonymous variants. PMID:34850938
Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. PMID:34840333
Disease variant prediction with deep generative models of evolutionary data. PMID:34707284
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2. PMID:34691159
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. PMID:34504351
Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia. PMID:34484308
Evaluation of different approaches for missing data imputation on features associated to genomic data. PMID:34479616
Modelling the functional genomics of Parkinson's disease in Caenorhabditis elegans: LRRK2 and beyond. PMID:34397087
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic. PMID:34373539
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. PMID:34356067
Patrolling human SLE haematopoietic progenitors demonstrate enhanced extramedullary colonisation; implications for peripheral tissue injury. PMID:34344937
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes. PMID:34282249
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis. PMID:34274969
Genome-based therapeutic interventions for β-type hemoglobinopathies. PMID:34090531
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. PMID:33960642
Ending a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient. PMID:33936654
A catalog of GWAS fine-mapping efforts in autoimmune disease. PMID:33798443
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm. PMID:33761318
Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma. PMID:33741650
Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series. PMID:33562224
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution. PMID:33552904
Diverse Taxonomies for Diverse Chemistries: Enhanced Representation of Natural Product Metabolism in UniProtKB. PMID:33445429
Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders. PMID:33275718
Accessing NCBI data using the NCBI Sequence Viewer and Genome Data Viewer (GDV). PMID:33239395
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. PMID:33193602
SVFX: a machine learning framework to quantify the pathogenicity of structural variants. PMID:33168059
Comorbidity Networks in Cardiovascular Diseases. PMID:32982776
Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain. PMID:32927888
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease. PMID:32794657
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. PMID:32531846
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. PMID:32467344
Progress, Challenges, and Surprises in Annotating the Human Genome. PMID:32421357
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. PMID:32340307
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. PMID:32337338
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4. PMID:32285480
Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer. PMID:32119081
Variants of Uncertain Significance and "Missing Pathogenicity". PMID:32009523
Cell-free DNA donor fraction analysis in pediatric and adult heart transplant patients by multiplexed allele-specific quantitative PCR: Validation of a rapid and highly sensitive clinical test for stratification of rejection probability. PMID:31929557
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. PMID:31836590
Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital. PMID:31797629
Standard operating procedure for curation and clinical interpretation of variants in cancer. PMID:31779674
ClinVar: improvements to accessing data. PMID:31777943
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:31701156
Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. PMID:31693276
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). PMID:31645350
VarSite: Disease variants and protein structure. PMID:31606900
BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas. PMID:31581559
The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later. PMID:31562822
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. PMID:31524990
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. PMID:31090061
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. PMID:30931400
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. PMID:30915099
Integrating Genomics into Healthcare: A Global Responsibility. PMID:30609404
Quantifying promoter-specific Insulin-like Growth Factor 1 gene expression by interrogating public databases. PMID:30604932
Using ClinVar as a Resource to Support Variant Interpretation PubMed citations: 45.

45 articles citing: Using ClinVar as a Resource to Support Variant Interpretation

Global DNA methylation profiling reveals chromosomal instability in IDH-mutant astrocytomas. PMID:35264242
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants. PMID:34869944
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. PMID:34795337
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss. PMID:34515852
Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors-A Cohort Study. PMID:34326811
Discovery of genomic variation across a generation. PMID:34296264
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. PMID:34108472
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report. PMID:33794876
Evaluating variants classified as pathogenic in ClinVar in the DDD Study. PMID:33149276
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies. PMID:33083132
The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies. PMID:32975887
Disease mutations in striated muscle myosins. PMID:32651905
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome. PMID:32431610
Clinical Interpretation of Sequence Variants. PMID:32176464
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
Genomic variant sharing: a position statement. PMID:31886409
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). PMID:31782611
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. PMID:31769566
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. PMID:31660654
Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice. PMID:31611405
First Responder to Genomic Information: A Guide for Primary Care Providers. PMID:31172371
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine. PMID:30730459
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. PMID:30665703
ClinVar database of global familial hypercholesterolemia-associated DNA variants. PMID:30311388
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. PMID:30311381
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. PMID:30303537
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. PMID:30220433
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. PMID:29790234
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. PMID:29532034
A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat. PMID:29525931
Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations. PMID:29109099
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. PMID:28782058
A new era in the interpretation of human genomic variation. PMID:28703787
"Matching" consent to purpose: The example of the Matchmaker Exchange. PMID:28699299
Germline genetic variants in men with prostate cancer and one or more additional cancers. PMID:28657667
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. PMID:28654958
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. PMID:28600779
Sources of discordance among germ-line variant classifications in ClinVar. PMID:28569743
Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance. PMID:28415857
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. PMID:28303425
Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients. PMID:27658390
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
Navigating genetic diagnostics in patients with hearing loss. PMID:27552069
Somatic cancer variant curation and harmonization through consensus minimum variant level data PubMed citations: 29.

29 articles citing: Somatic cancer variant curation and harmonization through consensus minimum variant level data

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. PMID:34373545
Clinical cancer genomic profiling. PMID:33762738
Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (edition 2.1). PMID:33249514
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. PMID:32246132
A virtual molecular tumor board to improve efficiency and scalability of delivering precision oncology to physicians and their patients. PMID:32025647
Evidence-Based Network Approach to Recommending Targeted Cancer Therapies. PMID:31990579
Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration. PMID:31930186
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). PMID:31645350
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. PMID:31443733
"Somatic" and "pathogenic" - is the classification strategy applicable in times of large-scale sequencing? PMID:31273095
Challenges of Providing Concordant Interpretation of Somatic Variants in Non-Small Cell Lung Cancer: A Multicenter Study. PMID:31205538
Validity of an NGS-based multiple gene panel in identifying actionable mutations for patients with NSCLC in a Chinese hospital. PMID:31186761
Clinical validation of the tempus xT next-generation targeted oncology sequencing assay. PMID:31040929
UniProt genomic mapping for deciphering functional effects of missense variants. PMID:30840782
HuVarBase: A human variant database with comprehensive information at gene and protein levels. PMID:30703169
Knowledge base toward understanding actionable alterations and realizing precision oncology. PMID:30542800
Database of evidence for precision oncology portal. PMID:30535306
Variant information systems for precision oncology. PMID:30463544
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. PMID:30311370
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. PMID:30181607
Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research. PMID:29888062
Personal Cancer Genome Reporter: variant interpretation report for precision oncology. PMID:29272339
The evidence framework for precision cancer medicine. PMID:29255239
ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. PMID:29218886
A novel molecular diagnostics platform for somatic and germline precision oncology. PMID:28717660
Managing the genomic revolution in cancer diagnostics. PMID:28639053
Ethical considerations in genomic testing for hematologic disorders. PMID:28600340
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. PMID:28340351
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer. PMID:28138153
Characterizing genetic variants for clinical action PubMed citations: 23.

23 articles citing: Characterizing genetic variants for clinical action

P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants. PMID:34377961
Building evidence and measuring clinical outcomes for genomic medicine. PMID:31395443
Opportunities, resources, and techniques for implementing genomics in clinical care. PMID:31395439
A systematic literature review of individuals' perspectives on privacy and genetic information in the United States. PMID:30379944
Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels. PMID:30255797
Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine. PMID:28212966
The value of genetic testing: beyond clinical utility. PMID:27977007
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. PMID:27538589
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. PMID:27437054
What are people willing to pay for whole-genome sequencing information, and who decides what they receive? PMID:27253734
Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine. PMID:27195526
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC). PMID:27026620
A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity. PMID:26751950
Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies. PMID:26600436
Global implementation of genomic medicine: We are not alone. PMID:26041702
Genetics of the dentofacial variation in human malocclusion. PMID:25865537
Perspectives on genetic and genomic technologies in an academic medical center: the duke experience. PMID:25854543
Use of contemporary genetics in cardiovascular diagnosis. PMID:25421045
Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions. PMID:25407129
Progress towards the integration of pharmacogenomics in practice. PMID:25238897
Living laboratory: whole-genome sequencing as a learning healthcare enterprise. PMID:25045831
Evidence synthesis and guideline development in genomic medicine: current status and future prospects. PMID:24946156

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data PubMed citations: 23.

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar PubMed citations: 13.

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard PubMed citations: 8.

ClinGen's GenomeConnect registry enables patient-centered data sharing PubMed citations: 7.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project PubMed citations: 6.

Development of a consent resource for genomic data sharing in the clinical setting PubMed citations: 6.

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis PubMed citations: 4.

https://www.nejm.org/doi/10.1056/NEJMsr1406261

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129219/

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ClinGen

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

Clinical Genome Resource
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

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ClinicalTrials.gov

ClinGen Variant Curation Interface

National Institutes of Health Stroke Scale Ontology

Clinical Trials Ontology

Ontology of Precision Medicine and Investigation

PubMed Central

Clinical Interpretation of Variants in Cancer

Polygenic Risk Score Reporting Standards

Organelle Genome Resource

Pharmacogenomics Knowledge Base

eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network

PMO Precision Medicine Ontology

GenCC Database

Mitochondrial Disease Sequence Data Resource

The Cancer Genome Atlas

DisGeNET: a knowledge base for disease genomics

Clinical MetaData Ontology

Clinical NGS DB

Conservation Genome Resource Bank for Korean Wildlife

National Database for Clinical Trials Related to Mental Illness

ClinGen Names More detailed information about this field from each metasource. × ClinGen metasource: BiŌkeanós-Medsourcing version: 0.0.1:2022-11-04T13:34:25.975929 Clinical Genome Resource metasource: BiŌkeanós-Medsourcing version: 0.0.1:2022-11-04T13:34:25.975929 Close

Webpage:

Licence:

More to explore:

1/20

ClinicalTrials.gov

ClinGen Variant Curation Interface

National Institutes of Health Stroke Scale Ontology

Clinical Trials Ontology

Ontology of Precision Medicine and Investigation

PubMed Central

Clinical Interpretation of Variants in Cancer

Polygenic Risk Score Reporting Standards

Organelle Genome Resource

Pharmacogenomics Knowledge Base

eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network

PMO Precision Medicine Ontology

GenCC Database

Mitochondrial Disease Sequence Data Resource

The Cancer Genome Atlas

DisGeNET: a knowledge base for disease genomics

Clinical MetaData Ontology

Clinical NGS DB

Conservation Genome Resource Bank for Korean Wildlife

National Database for Clinical Trials Related to Mental Illness

ClinGen

Names
More detailed information about this field from each metasource.

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

Clinical Genome Resource
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929