Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions

With the rapid increase in publicly available sequencing data, healthcare professionals are tasked with understanding how genetic variation informs diagnosis and affects patient health outcomes. Understanding the impact of a genetic variant in disease could be used to predict susceptibility/protecti...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Kevin Wilhelm, Mathew J. Edick, Susan A. Berry, Michael Hartnett, Amy Brower
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-05-01
Subjects:	newborn screening longitudinal data inborn errors of metabolism newborn screening translational research network (NBSTRN) longitudinal pediatric data resource (LPDR) clinvar
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.859837/full