Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

Many inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early diagnosis and treatment 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...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M., Mostafavi, Sara
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2018
Assuntos:
Metabolomics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5959954/
https://ncbi.nlm.nih.gov/pubmed/29721916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0139-6
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