Article

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data

2021-05-24

Abstract excerpt

The integration of metabolomics data with sequencing data is a key step towards improving the diagnostic process for finding the disease-causing gene(s) in patients suspected of having an inborn error of metabolism (IEM). The measured metabolite levels could provide additional phenotypical evidence to elucidate the degree of pathogenicity for variants found in metabolic genes. We present a computational approach,...

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Literature Corpus work: 6ab86dd7-6c87-5bf6-a362-65d1a506906f
DOI: 10.1101/2021.05.21.21257573

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