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SV annotation - merge order looses some translocation annotation

Open dnil opened this issue 5 years ago • 4 comments

VEP annotation should precede merger of SV files. Caller VCFs (manta, TIDDIT) have separate (linked) entries for both ends of a translocation. While this may be redundant, VEP is not yet translocation aware, and fails to annotate one (the numerically higher chromosome) if applied after merge.

dnil avatar Sep 20 '18 12:09 dnil