The Oculome Panel Test

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

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +16

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer, Colby Chiang, Aaron R. Quinlan et al. · Genome biology · 2014 · 1.8K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

Jeremy Nathans, Darcy Thomas, David S. Hogness · Science · 1986 · 1.7K citations

Medicine, Genetics, Molecular Genetics +10