OpenVar: functional annotation of variants in non-canonical open reading frames.

ABSTRACT:

Background

Recent technological advances have revealed thousands of functional open reading frames (ORF) that have eluded reference genome annotations. These overlooked ORFs are found throughout the genome, in any reading frame of transcripts, mature or non-coding, and can overlap annotated ORFs in a different reading frame. The exploration of these novel ORFs in genomic datasets and of their role in genetic traits is hindered by a lack of software.

Results

Here, we present OpenVar, a genomic variant annotator that mends that gap and fosters meaningful discoveries. To illustrate the potential of OpenVar, we analysed all variants within SynMicDB, a database of cancer-associated synonymous mutations. By including non-canonical ORFs in the analysis, OpenVar yields a 33.6-fold,

SUBMITTER: Brunet MA 

PROVIDER: S-EPMC9375913 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature