SpliceDisease specifications


Unique identifier OMICS_09527
Name SpliceDisease
Restrictions to use None
Maintained No


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Publication for SpliceDisease

SpliceDisease citation


In silico prediction of splice altering single nucleotide variants in the human genome

Nucleic Acids Res
PMCID: 4267638
PMID: 25416802
DOI: 10.1093/nar/gku1206

[…] rding to our inclusion and exclusion criteria, 1164 unique splice-altering scSNVs within 408 genes from three databases constituted our positive group, among which 790 were from HGMD (), 266 from the SpliceDisease database () and 108 from DBASS (). Our negative group consisted of 1795 scSNVs within 1447 genes from the 1000 Genomes Project phase 1 data (). Our total sample size was 2959 (within 180 […]

SpliceDisease institution(s)
Department of Biomedical Informatics, Peking University Health Science Center; MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing, China; Beijing Fang Yuan Teng DA Technology Co Ltd, Beijing, China

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