Article

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

2019-12-15

Abstract excerpt

<h4>Objective</h4> Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions for which they aim to identify carriers. We applied a standardized framework for evaluation of gene-disease association to assess the clinical valid...

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Literature Corpus work: 806eff68-4f8c-5533-85a9-460c35edaa4b
DOI: 10.1101/2019.12.13.19014894

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