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Support unknowns in pedigree #795

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Merged
merged 3 commits into from
May 28, 2024
Merged

Support unknowns in pedigree #795

merged 3 commits into from
May 28, 2024

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bpblanken
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@bpblanken bpblanken marked this pull request as ready for review May 28, 2024 18:08
@bpblanken bpblanken requested a review from a team as a code owner May 28, 2024 18:08
@bpblanken bpblanken requested a review from matren395 May 28, 2024 18:09
@@ -202,7 +202,6 @@ def test_get_families_failed_sex_check(self):
[
[
'Sample ROS_006_18Y03226_D1 has pedigree sex F but imputed sex M',
'Sample ROS_006_18Y03227_D1 has pedigree sex M but imputed sex F',
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the logic behind this change... ROS_006_18Y03227_D1 is now denoted as U in the test pedigree, so the family fails for only the 'Sample ROS_006_18Y03226_D1 has pedigree sex F but imputed sex M' reason.

if family.samples[sample_id].sex not in {
sex_check_lookup[sample_id],
Sex.UNKNOWN,
}: # NB: Unknown samples in pedigree are excluded from sex check.
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do we know what Unknowns look like in our DSP/GP friends' returns?

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remind me: so the sex_check_lookup is what our DSP/GP friends are delivering, right. So if a given sample is 'Unknown' in Seqr, it doesn't matter what it's returned as in our DSP/GP friends' metrics.tsv file thing.

Would we want to try and ensure that it's also returned as 'U' by them? But once again, I don't know how that would look like returned

This does still fail of the family.samples[sample_id].sex is M/F and sex_check_lookup[sample_id] is F/M, or vice-versa.

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I think my thinking on this was that a U in the pedigree is quite distinct from a U in the imputed sex file and that they aren't actually comparable. The former is a project management issue whereas the latter is likely a statistical issue within DRAGEN.

I don't actually know how a U would be delivered in the imputed sex file, so we were, on purpose, extremely strict with the import of that column.

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Heard! In that case, lgtm

@matren395 matren395 self-requested a review May 28, 2024 20:13
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😮

if family.samples[sample_id].sex not in {
sex_check_lookup[sample_id],
Sex.UNKNOWN,
}: # NB: Unknown samples in pedigree are excluded from sex check.
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Heard! In that case, lgtm

@bpblanken bpblanken merged commit ff56115 into dev May 28, 2024
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@bpblanken bpblanken deleted the benb/unknowns_in_pedigree branch May 28, 2024 20:21
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2 participants