Article

Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification

2017-08-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the diseases’ respective prevalences, and the screen’s sensitivity for identifying disease-causing variants....

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Literature Corpus work: 1c814ed6-70cf-5049-b130-e765e8b6255d
DOI: 10.1101/178350

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