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@skchronicles skchronicles released this 28 Jun 19:02
· 25 commits to main since this release

genome-seek (v0.9.0)

A new minor release of the genome-seek pipeline!

What's changed

This release contains a new optional sub-workflow to call short germline variants (SNPs + Indels) using GATK4's set of recommended best practices. To enable the GATK germline pipeline, please provide the following option: --gatk-germline.

By default, i.e. if this option is not provided, the pipeline will call short germline variants using deepvariant. If this option is provided, it will call germline variants with GATK4's HaplotypeCaller and deepvariant.

Benchmarking

The GATK4 germline pipeline was benchmarked with GAIB sample HG002. For more information and the results, please see issue #21.

Contributors

@jlac, @skchronicles

Full Changelog: v0.8.0...v0.9.0