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

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

(2019) Joshua L. Deignan et al.   GENETICS IN MEDICINE

Variant classification changes over time in BRCA1 and BRCA2

(2019) Chloe Mighton et al.   GENETICS IN MEDICINE

The case for implementing sustainable routine, population-level genomic reanalysis

(2019) Christine Y. Lu et al.   GENETICS IN MEDICINE

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Systematic reanalysis of genomic data improves quality of variant interpretation

(2018) S.M. Hiatt et al.   CLINICAL GENETICS

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

(2018) Natasha T. Strande et al.   GENETICS IN MEDICINE

The impact of variant classification on the clinical management of hereditary cancer syndromes

(2018) Scott A. Turner et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing

(2018) Jacqueline Mersch et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

(2017) Matthew S Lebo et al.   GENETICS IN MEDICINE

A new era in the interpretation of human genomic variation

(2017) Heidi L Rehm   GENETICS IN MEDICINE

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

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

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

(2017) Sarah Macklin et al.   GENETICS IN MEDICINE

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

(2016) Kathryn B. Garber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN 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

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

(2015) Jordan Lerner-Ellis et al.   JOURNAL OF MEDICAL GENETICS

ClinGen — The Clinical Genome Resource

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