Article

A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders

2024-01-24

Abstract excerpt

Newborn screening using dried blood spot (DBS) samples has made a substantial contribution to public healthcare by detecting patients with genetic disorders as neonates. Targeted measurements of nucleic acids and metabolites have played major roles in newborn screening to date, while the feasibility of new non-targeted approaches, including genome-wide DNA sequencing, has been explored. Here, we investigated the a...

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Literature Corpus work: 33a055b7-5368-59f8-becf-196baeb755d5
DOI: 10.1101/2024.01.23.24301545

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