A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.
作者信息
Niehaus Annie, Azzariti Danielle R, Harrison Steven M, DiStefano Marina T, Hemphill Sarah E, Senol-Cosar Ozlem, Rehm Heidi L
机构信息
College of Medicine, Medical University of South Carolina, Charleston, SC, USA.
Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA.
出版信息
Genet Med. 2019 Aug;21(8):1699-1701. doi: 10.1038/s41436-018-0432-7. Epub 2019 Jan 23.
Abstract
摘要
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