Updated recommendation for the benign stand-alone ACMG/AMP criterion

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

(2018) Alicia R. Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION