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Sample_1006_1007_alleles.csv and Sample_1050_1051_alleles.csv #1

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liangyanabcd opened this issue Feb 4, 2024 · 4 comments
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@liangyanabcd
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Hi,I am a user of scHLApers, thank you for developing such an excellent tool. Could you please explain how the files Sample_1006_1007_alleles.csv and Sample_1050_1051_alleles.csv on the GitHub website were obtained? For example, where did the 'count' column come from? Also, why is the first column different in the two files, Sample_1006_1007_alleles.csv and Sample_1050_1051_alleles.csv? Are they detecting different genes in different samples?" Thank you!

@joycekang
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joycekang commented Feb 4, 2024

Hello! The alleles.csv files contain the HLA alleles (defined by IMGT) for each classical HLA gene (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1, -DPA1, -DPB1) for that individual. We obtained these by imputing the HLA alleles from genotype array data using SNP2HLA. You can see the notebook that generated the alleles.csv files for our project here: https://github.com/immunogenomics/hla2023/blob/main/scripts/1_genotype_and_QC/2_HLA_imp_newPanel_SNP2HLA.ipynb

The columns are different for each individual because individuals have different alleles.

For example, in Sample_1006_1007_alleles.csv:

HLA_DQB1*03:01 | HLA_DQB1 | 1
HLA_DQB1*06:03 | HLA_DQB1 | 1
HLA_DPA1*01:03 | HLA_DPA1 | 2
HLA_DPB1*04:01 | HLA_DPB1 | 2

This is saying that the individual is heterozygous for HLA-DQB1 and their alleles are HLA-DQB1*03:01 and 06:03, and they have one copy of each (the "count"). Then, the individual is homozygous for HLA-DPA1 (01:03) with 2 copies of that allele (hence the "2"). They are homozygous for HLA-DPB1 (04:01) with 2 copies of that allele. Does this make sense?

The HLA allele calls can be obtained via HLA imputation, or direct sequence based typing, depending on what data you have available.

@liangyanabcd
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liangyanabcd commented Feb 4, 2024

Thanks~

@joycekang
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joycekang commented Feb 6, 2024 via email

@liangyanabcd
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Thanks, I need some time to test. I will give you feedback as soon as possible!

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