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OpenCRAVAT integration #1626

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malachig opened this issue Jul 8, 2021 · 1 comment
Open

OpenCRAVAT integration #1626

malachig opened this issue Jul 8, 2021 · 1 comment

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@malachig
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malachig commented Jul 8, 2021

OpenCRAVAT has these really beautiful variant reports that among other things provide results from a whole collection of variant effect predictors (FATHMM, MutPred, PROVEAN, etc.).

See example here:
https://run.opencravat.org/webapps/variantreport/index.html?chrom=chr11&pos=48123823&ref_base=A&alt_base=C

This works off of build38 coordinates. So maybe we can construct such a URL from information obtained from ClinGen Allele Registry once that link is created.

@kkrysiak
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kkrysiak commented Jul 7, 2022

OpenCRAVAT's docs in case these are helpful https://open-cravat.readthedocs.io/en/latest/

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