PanSVR: Pan-Genome Augmented Short Read Realignment for Sensitive Detection of Structural Variations.

ABSTRACT: The comprehensive discovery of structure variations (SVs) is fundamental to many genomics studies and high-throughput sequencing has become a common approach to this task. However, due the limited length, it is still non-trivial to state-of-the-art tools to accurately align short reads and produce high-quality SV callsets. Pan-genome provides a novel and promising framework to short read-based SV calling since it enables to comprehensively integrate known variants to reduce the incompleteness and bias of single reference to breakthrough the bottlenecks of short read alignments and provide new evidences to the detection of SVs. However, it is still an open problem to develop effective computational approaches to fully take the advantage of pan-genomes. Herein, we propose Pan-genome augmente

SUBMITTER: Li G 

PROVIDER: S-EPMC8417358 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature