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

ABSTRACT:

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 sequencing and untargeted metabolomic data were collected and analyzed for 170 patients. Pathogenic variants, likely pathogenic variants, and variants of uncertain significance in genes associated with a biochemical phenotype were extracted. Metabolomic data were evaluated to determine if these variants resulted in biochemical abnormalities that could be used to support

SUBMITTER: Alaimo JT 

PROVIDER: S-EPMC7483344 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature