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keiranmraine avatar keiranmraine commented on August 22, 2024

@edawson thanks for the gist, we'd happily accept a PR to pull it into the code base.

The documentation does indicate that the format isn't exactly the same, but having the script for the bulk of cases would be a good idea.

FYI you can get a pre-constructed set of reference files from here:

ftp://ftp.sanger.ac.uk/pub/cancer/dockstore/human/CNV_SV_ref_GRCh37d5_brass6+.tar.gz

(note these do NOT have a chr prefix)

from brass.

edawson avatar edawson commented on August 22, 2024

Sure! I've created PR #70 for this. Thank you for the reference files; I'll test on those as well.

from brass.

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