Evaluation of Germline Structural Variant Calling Methods for Nanopore Sequencing Data.

ABSTRACT: Structural variants (SVs) are genomic rearrangements that involve at least 50 nucleotides and are known to have a serious impact on human health. While prior short-read sequencing technologies have often proved inadequate for a comprehensive assessment of structural variation, more recent long reads from Oxford Nanopore Technologies have already been proven invaluable for the discovery of large SVs and hold the potential to facilitate the resolution of the full SV spectrum. With many long-read sequencing studies to follow, it is crucial to assess factors affecting current SV calling pipelines for nanopore sequencing data. In this brief research report, we evaluate and compare the performances of five long-read SV callers across four long-read aligners using both real and synthetic nanopore

SUBMITTER: Bolognini D 

PROVIDER: S-EPMC8637281 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature