Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

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

Discovery and saturation analysis of cancer genes across 21 tumour types

Michael S. Lawrence, Petar Stojanov, Craig H. Mermel et al. · Nature · 2014 · 3.2K citations · Full text

Medicine, Bioinformatics, Oncology +16

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

Life Sciences, Molecular Genetics, Molecular Medicine +16

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline Mutations in Predisposition Genes in Pediatric Cancer

Jinghui Zhang, Michael F. Walsh, Gang Wu et al. · New England Journal of Medicine · 2015 · 1.4K citations · Full text

Life Sciences, Genetics, Oncology +17