Supplementary Tables and Figures.

<div><p>In addition to the classical HLA genes, the major histocompatibility complex (MHC) harbors a high number of other polymorphic genes with less established roles in disease associations and transplantation matching. To facilitate studies of the non-classical and non-HLA genes in large patient and biobank cohorts, we trained imputation models for <i>MICA</i>, <i>MICB</i>, <i>HLA-E</i>, <i>HLA-F</i> and <i>HLA-G</i> alleles on genome SNP array data. We show, using both population-specific and multi-population 1000 Genomes references, that the alleles of these genes can be accurately imputed for screening and research purposes. The best imputation model for <i>MICA</i>, <i>MICB</i>, <i>HLA-E</i>, <i>-F</i> and <i>-G</i> achieved a mean accuracy of 99.3% (min, max: 98.6, 99.9). Furthermore, validation of the 1000 Genomes exome short-read sequencing-based allele calling against a clinical-grade reference data showed an average accuracy of 99.8%, testifying for the quality of the 1000 Genomes data as an imputation reference. We also fitted the models for Infinium Global Screening Array (GSA, Illumina, Inc.) and Axiom Precision Medicine Research Array (PMRA, Thermo Fisher Scientific Inc.) SNP content, with mean accuracies of 99.1% (97.2, 100) and 98.9% (97.4, 100), respectively.</p></div>

Publication Details

Journal
Figshare
Published
2024-09-16
DOI
https://doi.org/10.1371/journal.pcbi.1011718.s001
Primary Topic
Plant Ecology and Taxonomy Studies
Type
article
Field-Weighted Citation Impact
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Supplementary Tables and Figures.

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Plant Ecology and Taxonomy Studies
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Abstract

<div><p>In addition to the classical HLA genes, the major histocompatibility complex (MHC) harbors a high number of other polymorphic genes with less established roles in disease associations and transplantation matching. To facilitate studies of the non-classical and non-HLA genes in large patient and biobank cohorts, we trained imputation models for <i>MICA</i>, <i>MICB</i>, <i>HLA-E</i>, <i>HLA-F</i> and <i>HLA-G</i> alleles on genome SNP array data. We show, using both population-specific and multi-population 1000 Genomes references, that the alleles of these genes can be accurately imputed for screening and research purposes. The best imputation model for <i>MICA</i>, <i>MICB</i>, <i>HLA-E</i>, <i>-F</i> and <i>-G</i> achieved a mean accuracy of 99.3% (min, max: 98.6, 99.9). Furthermore, validation of the 1000 Genomes exome short-read sequencing-based allele calling against a clinical-grade reference data showed an average accuracy of 99.8%, testifying for the quality of the 1000 Genomes data as an imputation reference. We also fitted the models for Infinium Global Screening Array (GSA, Illumina, Inc.) and Axiom Precision Medicine Research Array (PMRA, Thermo Fisher Scientific Inc.) SNP content, with mean accuracies of 99.1% (97.2, 100) and 98.9% (97.4, 100), respectively.</p></div>

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Plant Ecology and Taxonomy Studies
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