Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Finding the Rare Pathogenic Variants in a Human Genome

(2017) James P. Evans et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome

(2016) Prakriti Gaba et al.   HEART RHYTHM

Prospective functional classification of all possible missense variants in PPARG

(2016) Amit R Majithia et al.   NATURE GENETICS

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer Genomics and Inherited Risk

(2014) Zsofia K. Stadler et al.   JOURNAL OF CLINICAL ONCOLOGY

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

(2013) Susan M. Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

A guide for functional analysis ofBRCA1variants of uncertain significance

(2012) Gaël A. Millot et al.   HUMAN MUTATION

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION