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

ABSTRACT: 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/protection and to help build a personalized medicine profile. In the United States, over 3.8 million newborns are screened for several rare genetic diseases each year, and the follow-up testing of screen-positive newborns often involves sequencing and the identification of variants. This presents the opportunity to use longitudinal health information from these newborns to inform the impact of variants identified in the course of diagnosis. To test this, we performed secondary analysis of a 10-year natu

SUBMITTER: Wilhelm K 

PROVIDER: S-EPMC9178101 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature