Article
SpliceAPP: an interactive web server to predict splicing errors arising from human mutations.
BMC genomics - 15 Jun 2024
Huang Ang-Chu, Su Jia-Ying, Hung Yu-Jen, Chiang Hung-Lun, Chen Yi-Ting, Huang Yen-Tsung, Yu Chen-Hsin Albert, Lin Hsin-Nan, Lin Chien-Ling
Abstract excerpt
BACKGROUND: Splicing variants are a major class of pathogenic mutations, with their severity equivalent to nonsense mutations. However, redundant and degenerate splicing signals hinder functional assessments of sequence variations within introns, particularly at branch sites. We have established a massively parallel splicing assay to assess the impact on splicing of 11,191 disease-relevant variants. Based on the...
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