VEP repeated region flag
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Entering edit mode
11 months ago
cocchi.e89 ▴ 170

Quick question, I googled around but found no answer for it, is there any VEP functionality that allows to know if a variant falls in a repeated region? (I am talking in order to screen for the PM4 ACMG criteria: protein length changes as a result of in-frame deletions/insertions in a non-repeat region or stop-loss variants), or any repeated-regions .bed file available to check it?

Thank you very much in advance for any help!

VEP repeated-region variant human • 364 views
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Entering edit mode
11 months ago

We haven't got any plugins to check repeat regions, I'm afraid. If you have a suitable bed file you can use the custom annotations options, but we don't release bed files of the repeats.

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