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Should the tool duphold also work on small deletions <50bp? #52

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robertzeibich opened this issue Aug 17, 2023 · 4 comments
Open

Should the tool duphold also work on small deletions <50bp? #52

robertzeibich opened this issue Aug 17, 2023 · 4 comments

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@robertzeibich
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I got 12 true positive deletions with deletion sizes from 1 to 16bp. However, only for the deletion with a size of 16, I got a DHFFC < 0.7. Seems like duphold only works for larger variants. Is that correct?

@brentp
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brentp commented Aug 17, 2023

I think 50 would be the very lower limit where it could be expected to be reliable, but even that is a bit small.

@robertzeibich
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Thanks for the quick response. Is there a range when the tool is most reliable or do you have a recommendation?

@brentp
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brentp commented Aug 17, 2023

you can see in the readme the evaluations for >300 and >1000 but I think the accuracy should still be high above about 100 or so.

@robertzeibich
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Thanks. These numbers are not easy to find. Could also be added to the introduction section.

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