Article

Data-driven consideration of genetic disorders for global genomic newborn screening programs

2024-03-26

Abstract excerpt

<h4>Structured Abstract</h4> <h4>Purpose</h4> Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes. <h4>Methods</h4> We assembled a dataset comprising 25 characteristics about each of the 4,...

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Literature Corpus work: cfdd4744-fa28-5cef-a288-a68599c3a102
DOI: 10.1101/2024.03.24.24304797

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