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Is kevlar able to detect duplications/repeat expansions and in general CNV? #388

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ashenflower opened this issue Oct 27, 2021 · 1 comment

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@ashenflower
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@standage
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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.

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