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Does not call cause of AZ #5

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dnil opened this issue Dec 6, 2016 · 0 comments
Open

Does not call cause of AZ #5

dnil opened this issue Dec 6, 2016 · 0 comments
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@dnil
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dnil commented Dec 6, 2016

AZ could be explained by sex, IBD haploblock, deletion or UPD:

  • sex - use chromosome and PED file or coverage data on entire chromosome
  • IBD - use PED + trio variant data
  • Deletion - use coverage data from variant depth (or sv call file)
  • UPD - exclude the above.
@dnil dnil added this to the v1.0.0 milestone Dec 7, 2016
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