kevlar-dev / kevlar

Reference-free variant discovery in large eukaryotic genomes
https://kevlar.readthedocs.io
MIT License
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Is kevlar able to detect duplications/repeat expansions and in general CNV? #388

Open ashenflower opened 2 years ago

standage commented 2 years ago

I'm not sure how well kevlar would work for this out-of-the-box. For much of our previous testing, we saw a large number of false positives until we started masking e.g. segmental duplications. So depending on where the true duplications/expansions you're looking for are located, there is likely an important sensitivity/specificity trade-off you would need to investigate.