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CAGI5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice

Pathogenic genetic variants are often primarily affecting splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpretation (CAGI 5) proposed two splicing prediction chall...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Cheng, Jun, Çelik, Muhammed Hasan, Nguyen, Yen Duong, Avsec, Žiga, Gagneur, Julien
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7241300/
https://ncbi.nlm.nih.gov/pubmed/31070280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23788
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