The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

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

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

Yingyao Zhou, Bin Zhou, Lars Pache et al. · Nature Communications · 2019 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Systems Biology +10

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

Alternative isoform regulation in human tissue transcriptomes

Eric T. Wang, Rickard Sandberg, Shujun Luo et al. · Nature · 2008 · 5.4K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13

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