Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation
نویسندگان
چکیده
منابع مشابه
Clinical interpretation and implications of whole-genome sequencing.
IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication. OBJECTIVES To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies; to quantitate inherited disease risk and pharmacogenomic findings in WGS data and resources req...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2016
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2016.22