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

Many inborn errors of metabolism (IEMs) are amenable to treatment, therefore early diagnosis is imperative. Whole-exome sequencing (WES) variant prioritization coupled with phenotype-guided clinical and bioinformatics expertise is typically used to identify disease-causing variants; however, it can...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi, Sara
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7331614/
https://ncbi.nlm.nih.gov/pubmed/32637154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-0132-5
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