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@nevrome nevrome commented May 23, 2025

This package includes modern HO genotype data not already included in the v62 1240K packages. It is a slightly larger superset of AADR_v54_1_p1_HO_Modern_not_in_1240K. The workflow for its preparation is documented here: https://github.com/poseidon-framework/aadr2poseidon/tree/main/AADR62.0_to_Poseidon2.7.1_HO

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nevrome commented May 25, 2025

AADR_SNPs_HO should be mapped to Nr_SNPs

@TCLamnidis TCLamnidis requested a review from stschiff June 3, 2025 08:26
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Great! So I noticed two errors (I think):

First, the capture type should not be OtherCapture but simply n/a, because this modern data was neither captured nor in fact sequenced, but mostly subject to Micro-Array genotyping. And even though that results in conceptually similar data (in that only specific SNPs are genotyped), it's really very different from Capture and Sequencing.
You've set GenotypePloidy to haploid, but if I'm correct and this was created by Array-Genotyping, the data is in fact diploid. I have not checked, though, but would be very surprised if not.

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nevrome commented Jun 10, 2025

Good spotting! Thanks!

My code to check for ploidy is insufficient. I have to assign diploid not just for the .DG suffix, but also for .SDG and .HO.

nevrome added a commit to poseidon-framework/aadr2poseidon that referenced this pull request Jun 23, 2025
@nevrome nevrome merged commit 2370d8a into main Jun 23, 2025
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@nevrome nevrome deleted the v62HO branch June 23, 2025 13:13
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3 participants