The latest GATK release is out, with changes corresponding to the period of October 10, 2020 - February 18, 2021. The full GATK release notes are available on the GATK GitHub, but here is just a taste of what's new in GATK 4.2.0.0:
-
DRAGEN-GATK: We've been working closely with Illumina in order to port a number of tools from their DRAGEN pipeline into GATK, specifically for germline short variant calling. These tools will form the basis of the upcoming open-source DRAGEN pipeline implementation which we are calling
DRAGEN-GATK
. This is part of a much bigger release, so see this blog post for more information about these exciting developments.- We recommend that most users wait until the full
DRAGEN-GATK
pipeline is released as a WDL workflow before evaluating these new features. However, high-level users are currently able to implement DRAGEN-ported tools into their own pipelines, includingDragSTR
(for adjusting HMM indel priors with better indel calling) and two new genotyper error models (Base Quality DropoutBQR
and Foreign Read DetectionFRD
).
- We recommend that most users wait until the full
- HaplotypeCaller: We've added bugfixes and improvements to
HaplotypeCaller
to improve the phasing of variant calls, and to fix edge cases with indels and spanning deletions. - CNV Calling: A new pipeline for gCNV exome joint calling, including the
JointGermlineCNVSegmentation
tool (and associated workflowjoint_call_exome_cnvs.wdl
) to combine gCNV segments and calls across samples.
In addition, we've fixed bugs and added features in a number of areas, including:
- SV Calling: New
PrintSVEvidence
tool for printing Structural Variation evidence file types (RD, PE, SR, BAF), which is frequently used in the GATK-SV pipeline. -
GenomicsDB: New feature for
GenomicsDBImport
for boosting performance when using massive numbers of contigs. - Mutect2: Bugfixes and improvements to
Mutect2
,Funcotator
and mitochondrial pipelines.
These changes, and more, are explained in the full GATK release notes.
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