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Assessing predictions of the impact of variants on splicing in CAGI5.
Hum Mutat. 2019 Sep;40(9):1215-1224. doi: 10.1002/humu.23869. Epub 2019 Aug 19.
Hum Mutat. 2019.
PMID: 31301154
Free PMC article.
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.
Cheng J, Nguyen TYD, Cygan KJ, Çelik MH, Fairbrother WG, Avsec Ž, Gagneur J.
Cheng J, et al. Among authors: nguyen tyd.
Genome Biol. 2019 Mar 1;20(1):48. doi: 10.1186/s13059-019-1653-z.
Genome Biol. 2019.
PMID: 30823901
Free PMC article.
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CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice.
Cheng J, Çelik MH, Nguyen TYD, Avsec Ž, Gagneur J.
Cheng J, et al. Among authors: nguyen tyd.
Hum Mutat. 2019 Sep;40(9):1243-1251. doi: 10.1002/humu.23788. Epub 2019 Jul 29.
Hum Mutat. 2019.
PMID: 31070280
Free PMC article.
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
Critical Assessment of Genome Interpretation Consortium.
Critical Assessment of Genome Interpretation Consortium.
Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6.
Genome Biol. 2024.
PMID: 38389099
Free PMC article.
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