Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

PURPOSE: Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with genomic variants could improve the diagnostic rate. We aimed to investigate publicly available exome sequencing data and its matching...

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Detalles Bibliográficos
Autores principales: Yamada, Mamiko, Suzuki, Hisato, Shiraishi, Yuichi, Kosaki, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819738/
https://www.ncbi.nlm.nih.gov/pubmed/31687339
http://dx.doi.org/10.1016/j.ymgmr.2019.100531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819738/
https://www.ncbi.nlm.nih.gov/pubmed/31687339
http://dx.doi.org/10.1016/j.ymgmr.2019.100531

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