How does Truvari deal with translocations? #169
Replies: 1 comment 1 reply
-
Hello, I'm sorry to say that Truvari does not handle translocation (or any BNDs). I also don't have them included on my development roadmap. Have a good day, |
Beta Was this translation helpful? Give feedback.
1 reply
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment
Uh oh!
There was an error while loading. Please reload this page.
-
Hello,
I am studying genomics and am using Truvari for benchmarking SV caller results. I'm curious about how Truvari benchmarks translocations, specifically regarding the refdist parameter (refdist | 500 | Maximum distance comparison calls must be within from base call's start/end). Given that translocations have two start/end position pairs, does Truvari apply the refdist parameter to both pairs?
I've examined the source code and tried benchmarking SV callers, but I couldn't clarify this aspect. Any insights or recommendations would be much appreciated.
Thank you,
Thomas
Beta Was this translation helpful? Give feedback.
All reactions