/pav-wdl

Workspace for WDL implementation of PAV

Primary LanguageWDL

pav-wdl

Workspace for WDL implementation of PAV v2.3.2

This is a desynchronized replication of PAV (https://github.com/EichlerLab/pav) for implementation in WDL for use by Cromwell or any WDL compatible platform.

Any use of this repository should cite either of the following papers:

Ebert et al., “Haplotype-Resolved Diverse Human Genomes and Integrated Analysis of Structural Variation,” Science, February 25, 2021, eabf7117, https://doi.org/10.1126/science.abf7117.

Audano et al., "PAV: An assembly-based approach for discovering structural variants, indels, and point mutations in long-read phased genomes," ASHG Annual Meeting, October 20 (10:45 - 11:00 AM), PrgmNr 1160