Insertion variants missing in the human reference genome are widespread among human populations.

ABSTRACT:

Background

Structural variants comprise diverse genomic arrangements including deletions, insertions, inversions, and translocations, which can generally be detected in humans through sequence comparison to the reference genome. Among structural variants, insertions are the least frequently identified variants, mainly due to ascertainment bias in the reference genome, lack of previous sequence knowledge, and low complexity of typical insertion sequences. Though recent developments in long-read sequencing deliver promise in annotating individual non-reference insertions, population-level catalogues on non-reference insertion variants have not been identified and the possible functional roles of these hidden variants remain elusive.

Results

To detect non-reference insertion va

SUBMITTER: Lee YG 

PROVIDER: S-EPMC7666470 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature