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Article

Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions

8 Apr 2022

Abstract excerpt

PURPOSE: This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children. METHODS: We modeled costs, diagnoses, and quality-adjusted life years (QALYs) for diagnostic strategies for critically ill infants (aged <1 year) and children (aged <18 years) with suspected genetic conditions: (1) standard of care (SOC) testing, (2) ES, (3) GS, (4) SOC followed by ES,...

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PMID: 35396982
DOI: 10.1016/j.gim.2022.03.005

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