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somalier (sample control + ancestry) #446

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egenomics opened this issue Nov 15, 2023 · 1 comment
Open

somalier (sample control + ancestry) #446

egenomics opened this issue Nov 15, 2023 · 1 comment
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enhancement Improvement for existing functionality

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@egenomics
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Description of feature

Implement the software somalier to have a quality control to detect sample swaps, as well as some output on the ancestry of the sample, very useful to interpret a clinical sample.

https://github.com/brentp/somalier

A possible alternative for ancestry would be rye:
https://github.com/healthdisparities/rye

@egenomics egenomics added the enhancement Improvement for existing functionality label Nov 15, 2023
@jemten
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jemten commented Nov 15, 2023

Good idea, we're already using peddy from the same author to do ancestry, relatedness and sex check. He is suggesting switching to somalier as the more scalable solution. Will look into this for upcoming releases

@Lucpen Lucpen self-assigned this Dec 4, 2023
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