Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

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

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

(2017) Ronak Y. Patel et al.   Genome Medicine

Pathogenicity of Hypertrophic Cardiomyopathy Variants

(2017) Jodie Ingles et al.   Circulation-Cardiovascular Genetics

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

(2016) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

Somatic cancer variant curation and harmonization through consensus minimum variant level data

(2016) Deborah I. Ritter et al.   Genome Medicine

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

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH