Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

PURPOSE: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7272326/
https://ncbi.nlm.nih.gov/pubmed/32123317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0766-9
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