One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
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Published:2021-09
Issue:9
Volume:23
Page:1673-1680
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Lincoln Stephen E.,
Hambuch TinaORCID,
Zook Justin M.,
Bristow Sara L.,
Hatchell Kathryn,
Truty Rebecca,
Kennemer Michael,
Shirts Brian H.,
Fellowes Andrew,
Chowdhury Shimul,
Klee Eric W.,
Mahamdallie Shazia,
Cleveland Megan H.,
Vallone Peter M.,
Ding Yan,
Seal Sheila,
DeSilva Wasanthi,
Tomson Farol L.,
Huang Catherine,
Garlick Russell K.,
Rahman Nazneen,
Salit Marc,
Kingsmore Stephen F.,
Ferber Matthew J.,
Aradhya Swaroop,
Nussbaum Robert L.
Subject
Genetics (clinical)
Cited by
54 articles.
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