作者
Karen E Wain, Emily Palen, Juliann M Savatt, Devin Shuman, Brenda Finucane, Andrea Seeley, Thomas D Challman, Scott M Myers, Christa Lese Martin
发表日期
2018/11
期刊
Human mutation
卷号
39
期号
11
页码范围
1660-1667
简介
With the increasing use of clinical genomic testing across broad medical disciplines, the need for data sharing and curation efforts to improve variant interpretation is paramount. The National Center for Biotechnology Information (NCBI) ClinVar database facilitates these efforts by serving as a repository for clinical assertions about genomic variants and associations with disease. Most variant submissions are from clinical laboratories, which may lack clinical details. Laboratories may also choose not to submit all variants. Clinical providers can contribute to variant interpretation improvements by submitting variants to ClinVar with their own assertions and supporting evidence. The medical genetics team at Geisinger's Autism & Developmental Medicine Institute routinely reviews the clinical significance of all variants obtained through clinical genomic testing, using published ACMG/AMP guidelines, clinical correlation …
引用总数
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