Concepedia

Publication | Open Access

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

DOIFull Paper Access

133

Citations

27

References

2015

Year

Dale L. Bodian, Elisabeth Klein, Ramaswamy K. Iyer, Wendy S.W. Wong, Prachi Kothiyal, Daniel Stauffer, Kathi Huddleston, Amber D. Gaither, Irina Remsburg, Alina Khromykh,
Genetics in Medicine

Abstract

WGS may help rule in and rule out NBS disorders, pinpoint molecular diagnoses, and detect conditions not amenable to current NBS assays.

References

YearCitations

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