LevioSAM: fast lift-over of variant-aware reference alignments

Bioinformatics. 2021 Nov 18;37(22):4243-4245. doi: 10.1093/bioinformatics/btab396.

Abstract

Motivation: As more population genetics datasets and population-specific references become available, the task of translating ('lifting') read alignments from one reference coordinate system to another is becoming more common. Existing tools generally require a chain file, whereas VCF files are the more common way to represent variation. Existing tools also do not make effective use of threads, creating a post-alignment bottleneck.

Results: LevioSAM is a tool for lifting SAM/BAM alignments from one reference to another using a VCF file containing population variants. LevioSAM uses succinct data structures and scales efficiently to many threads. When run downstream of a read aligner, levioSAM is more than 7 times faster than an aligner when both are run with 16 threads.

Availability and implementation: Software Package: https://github.com/alshai/levioSAM, Experiments: https://github.com/langmead-lab/levioSAM-experiments.

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • High-Throughput Nucleotide Sequencing*
  • Sequence Analysis, DNA
  • Software*