Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis

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...

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Detalles Bibliográficos
Autores principales: Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483344/
https://www.ncbi.nlm.nih.gov/pubmed/32439973
http://dx.doi.org/10.1038/s41436-020-0827-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483344/
https://www.ncbi.nlm.nih.gov/pubmed/32439973
http://dx.doi.org/10.1038/s41436-020-0827-0

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