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

Splicing QTL (sQTL), genetic variants regulating alternative splicing, can be biologically important, but complex to detect and interpret. Here, the authors identify sQTL by focusing on protein coding sequences, as an alternative to junction-based approaches.

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Autori principali: Kensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, Yumi Tsuchida, Haruka Tsuchiya, Shuji Sumitomo, Yasuo Nagafuchi, Fuyuki Miya, Tatsuhiko Tsunoda, Hirofumi Shoda, Keishi Fujio, Kazuhiko Yamamoto, Yuta Kochi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Portfolio 2022-08-01
Serie:Nature Communications
Accesso online:https://doi.org/10.1038/s41467-022-32358-1
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