Using multiple reference genomes to identify and resolve annotation inconsistencies.

ABSTRACT:

Background

Advances in sequencing technologies have led to the release of reference genomes and annotations for multiple individuals within more well-studied systems. While each of these new genome assemblies shares significant portions of synteny between each other, the annotated structure of gene models within these regions can differ. Of particular concern are split-gene misannotations, in which a single gene is incorrectly annotated as two distinct genes or two genes are incorrectly annotated as a single gene. These misannotations can have major impacts on functional prediction, estimates of expression, and many downstream analyses.

Results

We developed a high-throughput method based on pairwise comparisons of annotations that detect potential split-gene misannotations a

SUBMITTER: Monnahan PJ 

PROVIDER: S-EPMC7140576 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature