Article

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

2024-10-01

Abstract excerpt

<h4>Summary</h4> Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because complex inclusion criteria used to prioritize testing eligibility omits many patients at high risk for a genetic condition. SeqFirst-neo is a program to test whether a genotype-driven workflow using simple, broad exclusion criteria to assess eligibility for rapid whole genome sequencing (rWGS...

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Literature Corpus work: 75abbf29-7e09-5855-b678-afd842b98d11
DOI: 10.1101/2024.09.30.24314516

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