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Remove harcoded GRCh38 version for AnnotSv #76

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juanesarango
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@juanesarango juanesarango commented Oct 8, 2024

Hi thanks for this awesome open source tool! 🥇

My teammate @ddomenico and I noticed that AnnotSV runs a harcoded version of GRCh38, even though the README instructions provide commands to download reference files like the Exomiser data in version hg19.

AnnotSV \
-SVinputFile ${sampleID}_merged.vcf \
-annotationsDir ${params.annotsvDir} \
-bedtools bedtools -bcftools bcftools \
-annotationMode ${mode} \
-genomeBuild GRCh38 \
-includeCI 1 \
-overwrite 1 \
-outputFile ${outputFile} ${extraArgs}
"""

Using GRCh38 or GRCh37 should be configurable through a param . I added the param.genomeBuild to annotation removing the hardcoded GRCh38. And set GRCh37 as default to match the README example.

@georgiesamaha
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Thanks for picking that up @juanesarango!

@georgiesamaha georgiesamaha merged commit a70ce18 into Sydney-Informatics-Hub:main Oct 23, 2024
@juanesarango juanesarango deleted the add-param-for-genome-build branch October 23, 2024 03:48
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2 participants