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Article

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2016

Bodian Dale L, Klein Elisabeth, Iyer Ramaswamy K, Wong Wendy S W, Kothiyal Prachi, Stauffer Daniel, Huddleston Kathi C, Gaither Amber D, Remsburg Irina, Khromykh Alina, Baker Robin L, Maxwell George L, Vockley Joseph G, Niederhuber John E, Solomon Benjamin D

Abstract excerpt

PURPOSE: To assess the potential of whole-genome sequencing (WGS) to replicate and augment results from conventional blood-based newborn screening (NBS). METHODS: Research-generated WGS data from an ancestrally diverse cohort of 1,696 infants and both parents of each infant were analyzed for variants in 163 genes involved in disorders included or under discussion for inclusion in US NBS programs. WGS results were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26334177
DOI: 10.1038/gim.2015.111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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