Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Life Sciences, Bioinformatics, Molecular Medicine +16

A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data

Deborah J. Thompson, Douglas F. Easton, David E. Goldgar · The American Journal of Human Genetics · 2003 · 139 citations · Full text

Life Sciences, Bioinformatics, Genetics +12