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Feature Request- Add in gnomAD SV call set to prior #27

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jjfarrell opened this issue Mar 20, 2020 · 1 comment
Open

Feature Request- Add in gnomAD SV call set to prior #27

jjfarrell opened this issue Mar 20, 2020 · 1 comment

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@jjfarrell
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The prior vcf that is distributed BayesTyper has a very comprehensive list of SVs. Now there is a recently released SV vcf from gnomAD would be great to add to the present prior list: gnomadSV v2.1 vcf is found at https://gnomad.broadinstitute.org/downloads#v2-structural-variants.

@jonassibbesen
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Good idea! Thank you for the suggestion. As previously mentioned I do not have much time to work on BayesTyper currently. I have labeled it as an enhancement and will keep the issue open as a reminder. In the meantime, you can maybe create it yourself by merging the prior with the gnomAD callset using bayesTyperTools combine. Remember to make sure that the contigs appear in the same order in the header and for the variant entries in the two files.

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