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

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

doi:10.1038/gim.2015.111

Public

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

Published in Genetics in Medicine • Sep 3, 2015

Authors:

Dale L. Bodian

Elisabeth Klein

Ramaswamy K. Iyer

Abstract

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 variant...

Subject

False positive paradox

Newborn screening

Whole genome sequencing

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