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Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Splicing quantitative trait loci (sQTLs) are one of the major causal mechanisms in genome-wide association study (GWAS) loci, but their role in disease pathogenesis is poorly understood. One reason is the complexity of alternative splicing events producing many unknown isoforms. Here, we propose two...

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Detalles Bibliográficos
Autores principales: Yamaguchi, Kensuke, Ishigaki, Kazuyoshi, Suzuki, Akari, Tsuchida, Yumi, Tsuchiya, Haruka, Sumitomo, Shuji, Nagafuchi, Yasuo, Miya, Fuyuki, Tsunoda, Tatsuhiko, Shoda, Hirofumi, Fujio, Keishi, Yamamoto, Kazuhiko, Kochi, Yuta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402578/
https://www.ncbi.nlm.nih.gov/pubmed/36002455
http://dx.doi.org/10.1038/s41467-022-32358-1