Ontology highlight
ABSTRACT:
SUBMITTER: Gross AM
PROVIDER: S-EPMC6752263 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Gross Andrew M AM Ajay Subramanian S SS Rajan Vani V Brown Carolyn C Bluske Krista K Burns Nicole J NJ Chawla Aditi A Coffey Alison J AJ Malhotra Alka A Scocchia Alicia A Thorpe Erin E Dzidic Natasa N Hovanes Karine K Sahoo Trilochan T Dolzhenko Egor E Lajoie Bryan B Khouzam Amirah A Chowdhury Shimul S Belmont John J Roller Eric E Ivakhno Sergii S Tanner Stephen S McEachern Julia J Hambuch Tina T Eberle Michael M Hagelstrom R Tanner RT Bentley David R DR Perry Denise L DL Taft Ryan J RJ
Genetics in medicine : official journal of the American College of Medical Genetics 20181008 5
<h4>Purpose</h4>Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we evaluate copy-number variant (CNV) calling as part of a clinically accredited GS test.<h4>Methods</h4>We performed analytical validation of CNV calling on 17 reference samples, compared the sensitivity of GS-based variants with those from a clini ...[more]