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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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Cheng, Jun, Çelik, Muhammed Hasan, Nguyen, Yen Duong, Avsec, Žiga, Gagneur, Julien
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Online Erişim: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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