Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

ABSTRACT: A proportion of previously defined benign variants or variants of uncertain significance in humans, which are challenging to identify, may induce an abnormal splicing process. An increasing number of methods have been developed to predict splicing variants, but their performance has not been completely evaluated using independent benchmarks. Here, we manually sourced ∼50 000 positive/negative splicing variants from > 8000 studies and selected the independent splicing variants to evaluate the performance of prediction methods. These methods showed different performances in recognizing splicing variants in donor and acceptor regions, reminiscent of different weight coefficient applications to predict novel splicing variants. Of these methods, 66.67% exhibited higher specificities than sensit

SUBMITTER: Li K 

PROVIDER: S-EPMC9458456 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature