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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2020

Alaimo Joseph T, Glinton Kevin E, Liu Ning, Xiao Jing, Yang Yaping, Reid Sutton V, Elsea Sarah H

Abstract excerpt

PURPOSE: A primary barrier to improving exome sequencing diagnostic rates is the interpretation of variants of uncertain clinical significance. We aimed to determine the contribution of integrated untargeted metabolomics in the analysis of exome sequencing data by retrospective analysis of patients evaluated by both exome sequencing and untargeted metabolomics within the same clinical laboratory. METHODS: Exome...

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PMID: 32439973
DOI: 10.1038/s41436-020-0827-0
PMCID: PMC7483344

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