Article

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases

2021-10-16

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Despite exome (ES) or genome sequencing (GS) availability, chromosomal microarray (CMA) remains the first-line diagnostic tests in most rare disorders diagnostic work-up, looking for Copy-number variations (CNV), with a diagnostic yield of 10-20%. The question of the equivalence of CMA and ES in CNV calling is an organisational and economic question, especially when ordering a...

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Literature Corpus work: b75f981b-37a8-57d2-b3ba-a2723e0af7e1
DOI: 10.1101/2021.10.14.21264732

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