TIVAN-indel: a computational framework for annotating and predicting non-coding regulatory small insertions and deletions.

ABSTRACT:

Motivation

Small insertion and deletion (sindel) of human genome has an important implication for human disease. One important mechanism for non-coding sindel (nc-sindel) to have an impact on human diseases and phenotypes is through the regulation of gene expression. Nevertheless, current sequencing experiments may lack statistical power and resolution to pinpoint the functional sindel due to lower minor allele frequency or small effect size. As an alternative strategy, a supervised machine learning method can identify the otherwise masked functional sindels by predicting their regulatory potential directly. However, computational methods for annotating and predicting the regulatory sindels, especially in the non-coding regions, are underdeveloped.

Results

By leveraging labe

SUBMITTER: Agarwal A 

PROVIDER: S-EPMC9900211 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature