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1000 Genomes data should be haploid, but has some heterozygous positions #134

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stschiff opened this issue Sep 14, 2023 · 0 comments
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A new feature in validate in version 1.4.0.0 checks whether Genotype_Ploidy from the Janno file is consistent with genotype data.

When running this on the community-archive, I noticed that sample HG01804.SG in the package 2015_1000Genomes_1240K_haploid_pulldown has indeed heterozygotes, even though it should be haploid pulldown. We need to check whether this is an error already present in the AADR or not.

For now, in order to have this package validate, I marked the Genotype_Ploidy for this one single sample as missing. But we need to set it back to haploid once we have figured out what's going on

@stschiff stschiff self-assigned this Dec 10, 2024
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