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

作者：Sue Richards, Nazneen Aziz, Sherri J. Bale, David Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl V. Voelkerding, Heidi L. Rehm · 发表于：Genetics in Medicine · 年份：2015 · DOI：10.1038/gim.2015.30 · 被引用次数：33113 · 研究领域：Genomics and Rare Diseases、BRCA gene mutations in cancer、Cancer Genomics and Diagnostics