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Official code repository for GATK versions 4 and up

Home Page: https://software.broadinstitute.org/gatk

License: Other

R 0.23% Java 93.85% Shell 0.98% Python 2.29% JavaScript 0.05% HTML 0.08% CSS 0.01% WDL 2.22% Dockerfile 0.03% Roff 0.01% FreeMarker 0.27%
genomics spark science dna ngs sequencing genome bioinformatics gatk

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gatk's Issues

port GenotypeGVCFs

The requirement is to port the GenotypeGVCFs tool and tests. Test data should be made public whenever possible.

make a flexible coverage tool (DepthOfCoverage, DiagnoseTargets, ...)

DepthOfCoverage
DiagnoseTargets

From @vdauwera
It would probably make sense to write one really good tool for coverage analysis to replace these two. DoC is great at providing per-locus coverage counts, and the main output table is straightforward and easy for downstream scripts to consume. The summary results table is also ok. But the functionality for aggregating results over intervals and refseq gene lists is super confusing; intervals and genelists interact in an counterintuitive way, and the refseq format requirements are a little vague. In contrast, DT is great at providing per-interval results that give you a go/no-go for callability (+ a culprit metric e.g. MAPQ0, DP etc. in case of a no-go call), but the output is terrible (a pseudo-VCF, which users dont like) and it does not give any per-site counts. There are related tools that users find somewhat useful like CallableLoci, CompareCallableLoci, QualifyMissingIntervals, FindCoveredIntervals, CoveredByNSamplesSites etc. which have overlapping functionality with the coverage tools, and whose functionalities could perhaps be folded into a pan-coverage tool.

List key GATK walkers

Not all walkers will move to hellbender, only those that are most useful and we want to keep supporting. This issue will collect them - they will come from best practices, help forum, talking to dev team members, common sense.

port VariantFiltration

the requirement is to port the VariantFiltration tool and the tests. Tests use Broad-only data but the data seems sharable (please review when porting) and should be made public.

Additionally, Picard tool FilterVCF should be removed in favor of this tool.

Implement a window "traversal"

a Bam file is to be traversed in a sliding window fashion - 2 parameters are widow size and skip length. All reads in the window are then made available to the user. HaplotypeCaller will be the main user of this functionality

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