VEP repeated region flag
2
1
Entering edit mode
4.0 years ago
cocchi.e89 ▴ 290

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 • 1.4k views
ADD COMMENT
1
Entering edit mode
4.0 years ago
Emily 24k

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.

ADD COMMENT
1
Entering edit mode
2.9 years ago
Vivek Todur ▴ 60

You can make use of the "RepeatMask" track from UCSC, for hg38 you can get it from here. Hope this helps.

ADD COMMENT

Login before adding your answer.

Traffic: 1915 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6