seqan / iGenVar

The official repository for the iGenVar project.
BSD 3-Clause "New" or "Revised" License
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[FEATURE] Call/Confirm SVs with read depth information #179

Open Irallia opened 2 years ago

joshuak94 commented 2 years ago

There are two ways I'm considering for the read depth:

  1. We calculate the read depth over the entire BAM file (maybe using a sliding window average), and then use the discrepancies to call breakends. This would occur in the variant detection stage.
  2. We feed in a vector of clusters for just insertions and deletions (since those are the only two which can be detected via read depth), and can then either support or not support the call. This would occur after the variant detection and clustering stages.
Irallia commented 2 years ago

Since we assume with 1 that our breakpoints are probably very fuzzy, I would prefer version 2. But we should keep in mind, that there is the possibility of version 1, which we could doublecheck later. Question would be, are there lot of SVs just detected by read depth and how fuzzy are the breakpoints..

In addition to insertions and deletions, there are also duplications (which are basically insertions aswell).

joshuak94 commented 2 years ago

I would say using just read depth would be not very accurate. But if you use it in combination with the other methods, then the fuzzy breakends don't matter too much since they'll be supported by things like split reads which have much more precision.

Irallia commented 2 years ago

Okay, then I would say we go with version 1 and then see if our F1 score in the benchmarks suffers or benefits. 👍