Related references
Note: Only part of the references are listed.Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience
Austin Bland et al.
GENETICS IN MEDICINE (2018)
Database resources of the National Center for Biotechnology Information
Richa Agarwala et al.
NUCLEIC ACIDS RESEARCH (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Naisha Shah et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
Bruce D. Gelb et al.
GENETICS IN MEDICINE (2018)
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Melissa A. Kelly et al.
GENETICS IN MEDICINE (2018)
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
Sarah S. Kalia et al.
GENETICS IN MEDICINE (2017)
UniProt: the universal protein knowledgebase
Alex Bateman et al.
NUCLEIC ACIDS RESEARCH (2017)
COSMIC: somatic cancer genetics at high-resolution
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2017)
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
Steven M. Harrison et al.
GENETICS IN MEDICINE (2017)
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
Michael S. Watson
GENETICS IN MEDICINE (2017)
Sources of discordance among germ-line variant classifications in ClinVar
Shan Yang et al.
GENETICS IN MEDICINE (2017)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
ClinVar Is a Critical Resource to Advance Variant Interpretation
Heidi L. Rehm et al.
ONCOLOGIST (2017)
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory
William Gradishar et al.
ONCOLOGIST (2017)
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
Melanie G. Pepin et al.
GENETICS IN MEDICINE (2016)
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing
Judith Balmana et al.
JOURNAL OF CLINICAL ONCOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases
Paris J. Vail et al.
JOURNAL OF COMMUNITY GENETICS (2015)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Bryony A. Thompson et al.
NATURE GENETICS (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
Lora J. H. Bean et al.
HUMAN MUTATION (2013)
Pharmacogenomics Knowledge for Personalized Medicine
M. Whirl-Carrillo et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)
ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes
Amanda B. Spurdle et al.
HUMAN MUTATION (2012)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)