Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data

Many disease-associated genomic variants disrupt gene function through abnormal splicing. With the advancement of genomic medicine, identifying disease-associated splicing associated variants has become more important than ever. Most bioinformatics approaches to detect splicing associated variants r...

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Detalles Bibliográficos
Autores principales: Shiraishi, Yuichi, Okada, Ai, Chiba, Kenichi, Kawachi, Asuka, Omori, Ikuko, Mateos, Raúl Nicolás, Iida, Naoko, Yamauchi, Hirofumi, Kosaki, Kenjiro, Yoshimi, Akihide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522810/
https://www.ncbi.nlm.nih.gov/pubmed/36175409
http://dx.doi.org/10.1038/s41467-022-32887-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522810/
https://www.ncbi.nlm.nih.gov/pubmed/36175409
http://dx.doi.org/10.1038/s41467-022-32887-9

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