The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

(2021) Chloe Mighton et al.   JOURNAL OF MEDICAL GENETICS

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

(2021) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2019) Lora J. H. Bean et al.   GENETICS IN MEDICINE

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)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

(2018) Amy Taylor et al.   JOURNAL OF MEDICAL GENETICS

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

(2018) Erin R. Riggs et al.   HUMAN MUTATION

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

(2018) Steven M. Harrison et al.   HUMAN MUTATION

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

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

ClinVar: improving access to variant interpretations and supporting evidence

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

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

(2016) Kelly E. Caudle et al.   GENETICS IN 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

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

(2015) Ahmed Shamia et al.   HUMAN GENETICS

Protein-truncating variants in moderate-risk breast cancer susceptibility genes: A meta-analysis of high-risk case-control screening studies

(2015) Fatima Aloraifi et al.   Cancer Genetics

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS