ArticlePloS one2018
Immune diversity sheds light on missing variation in worldwide genetic diversity panels.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product.Scientific reports · 2025Trial
- EBNA1Neurology(R) neuroimmunology & neuroinflammation · 2026Article
- Ancient genomics study reveals low HLA diversity in eastern hunter-gatherers.Genome biology · 2026Article
- A multi-ethnic reference map of T cell receptor germline diversity reveals evidence of natural selection on alpha chain genes.Nature communications · 2026Article
- Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles.American journal of human genetics · 2026Article
- Archaic Introgression Shapes Genetic Variation at Loci Associated With DNA Virus Load in Modern Humans.Genome biology and evolution · 2026Article
- A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Early lymph node T follicular helper cell signalling hub drives influenza vaccine response in an ancestrally diverse cohort.EBioMedicine · 2025Article
- C > U mutations generate immunogenic peptides in SARS-CoV-2.Nature communications · 2025Article
- Taxonomy-free fecal microbiome profiles enable robust prediction of immunotherapy response and toxicity in melanoma.bioRxiv : the preprint server for biology · 2025Article
- NovumRNA: Accurate prediction of non-canonical tumor antigens from RNA sequencing data.iScience · 2025Article
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- Comprehensive assessment of computational methods for cancer immunoediting.Cell reports methods · 2025Article
- Admixture as a source for HLA variation in Neolithic European farming communities.Genome biology · 2025Article
- Article
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing.bioRxiv : the preprint server for biology · 2024Article
- Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss.Nature communications · 2024Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defining worldwide human genetic variation is a critical step to reveal how genome plasticity contributes to disease. Yet, there is currently no metric to assess the representativeness and completeness of current and widely used data on genetic variation. We show here that Human Leukocyte Antigen (HLA) genes can serve as such metric as they are both the most polymorphic and the most studied genetic system. As a test case, we investigated the 1,000 Genomes Project panel. Using high-accuracy in silico HLA typing, we find that over 20% of the common HLA variants and over 70% of the rare HLA variants are missing in this reference panel for worldwide genetic variation, due to undersampling and incomplete geographical coverage, in particular in Oceania and West Asia. Because common and rare variants both contribute to disease, this study thus illustrates how HLA diversity can detect and help fix incomplete sampling and hence accelerate efforts to draw a comprehensive overview of the genetic variation that is relevant to health and disease.
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