Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing

Abstract

by Nicole Ruiz-Schultz,Bryce Asay andAndreas Rohrwasser
Int. J. Neonatal Screen. 2021, 7(4), 63; https://doi.org/10.3390/ijns7040063 - 2022
Cited by 4 | Viewed by 3085
Abstract
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In this commentary, we discuss how next-generation sequencing (NGS) methods can be used as a secondary testing method in NBS. Additionally, we elaborate on the importance of genomic variant repositories for the annotation and interpretation of variants. Barriers to the incorporation of NGS and bioinformatics within NBS are discussed, and ideas for a regional bioinformatics model and shared variant repository are presented as potential solutions. Full article
(This article belongs to the Special Issue Next Generation Sequencing (NGS) in Newborn Screening)
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