Article
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.
Human mutation - 1 Aug 2020
Balzotti Marie, Meng Linyan, Muzzey Dale, Johansen Taber Katherine, Beauchamp Kyle, Curation Team Myriad Genetics, Curation Team Baylor Genetics, Mar-Heyming Rebecca, Buckley Bethany, Moyer Krista
Abstract excerpt
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 validity of conditions...
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