Article

metPropagate: network-guided propagation of metabolomic information for prioritization of neurometabolic disease genes

2020-01-16

Abstract excerpt

<h4>ABSTRACT</h4> Many inborn errors of metabolism (IEMs) are amenable to treatment, therefore early diagnosis before irreversible damage occurs is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown. For discovery purposes, Whole Exome Sequencing (WES) variant prioritization coupled with phenotype-guided clinical and bioinformatics expertise is currently the primary...

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Literature Corpus work: 1ea5acb7-b22c-5a1c-8037-6afab8552f52
DOI: 10.1101/2020.01.12.20016691

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