Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis

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

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Eugene Davydov, David L. Goode, Marina Sirota et al. · PLoS Computational Biology · 2010 · 1.9K citations · Full text

Life Sciences, Bioinformatics, Biology +17