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Joint Manta and Lumpy calls #13

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biobenkj opened this issue Dec 16, 2019 · 0 comments
Open

Joint Manta and Lumpy calls #13

biobenkj opened this issue Dec 16, 2019 · 0 comments

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@biobenkj
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Hi all,

Polaris is an amazing project. Thank you for doing this! We have been developing a set of references to use with our structural variant calling from WGBS using BISCUIT (https://github.com/huishenlab/biscuit) as the initial aligner. As a way to begin developing ways to filter SVs, because they can be a lot of fun (for varying levels of 'fun') we have realigned the raw Polaris diversity cohort to hg38 and reanalyzed SVs with smoove/Lumpy (https://github.com/brentp/smoove). Next we ran SURVIVOR (https://github.com/fritzsedlazeck/SURVIVOR) to get a joint set of SV calls with your existing Manta truthset calls (rel 2.1). Ultimately, we would like to provide some sort of reference/resource bundle or related approaches for filtering SV calls from WGBS with BISCUIT using the Polaris data set. Would this joint callset be something anyone in the Polaris group would be interested in evaluating? What additional attribution can we give to the project and restrictions to using the data as a resource bundle with BISCUIT?

Thanks so much for your time!

Ben

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