Article

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

2019-12-18

Abstract excerpt

<h4>Background</h4> Severity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically available ECS panel. We then mapped disease traits from the algorithm to severity-related criteria cited by the American College of Obstetricians and Gynecologists (...

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Literature Corpus work: 81b516db-6743-5192-9089-e01f1dac5e3f
DOI: 10.1101/2019.12.14.19014951

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