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Title: GitHub - a-thind/IBDVar: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases. · GitHub

Open Graph Title: GitHub - a-thind/IBDVar: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.

X Title: GitHub - a-thind/IBDVar: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.

Description: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases. - a-thind/IBDVar

Open Graph Description: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases. - a-thind/IBDVar

X Description: A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases. - a-thind/IBDVar

Opengraph URL: https://github.com/a-thind/IBDVar

X: @github

direct link

Domain: github.com

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Short Variantshttps://github.com/a-thind/IBDVar#short-variants-command-line-start
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Short Variantshttps://github.com/a-thind/IBDVar#short-variants
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BCFtools (1.15.1)http://samtools.github.io/bcftools/
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https://github.com/a-thind/IBDVar#variant-priorisation-pipelines
https://github.com/a-thind/IBDVar#short-variants-command-line-start
https://github.com/a-thind/IBDVar#input-vcf-file
version 4.2 specificationhttps://samtools.github.io/hts-specs/VCFv4.2.pdf
https://github.com/a-thind/IBDVar#configuration-parameters
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https://github.com/a-thind/IBDVar#using-a-screen-to-run-the-short-variants-pipeline
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https://github.com/a-thind/IBDVar#usage
https://github.com/a-thind/IBDVar#options
https://github.com/a-thind/IBDVar#structural-variants-command-line-start
https://github.com/a-thind/IBDVar#input-vcf-file-1
version 4.2 specificationhttps://samtools.github.io/hts-specs/VCFv4.2.pdf
https://github.com/a-thind/IBDVar#configuration-file
herehttps://github.com/a-thind/IBDVar/blob/main/scripts/config/example_sv.config
https://github.com/a-thind/IBDVar#usage-1
https://github.com/a-thind/IBDVar#options-1
https://github.com/a-thind/IBDVar#shiny-dashboard
https://github.com/a-thind/IBDVar#start-pipeline
https://user-images.githubusercontent.com/26285885/188452229-47ff8f44-dff3-4866-8a0b-0fc82c39b740.png
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https://github.com/a-thind/IBDVar#structural-variants
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