ArticleGenes and immunity2024
Resolving haplotype variation and complex genetic architecture in the human immunoglobulin kappa chain locus in individuals of diverse ancestry.
Article in Genes and immunity, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed.
- Naïve adaptive immune receptor repertoires in celiac disease assessed by machine learning; impact of the HLA-DQ2.5 allotype on the TCR repertoire.Immunogenetics · 2026Article
- VDJ-Insights: simplifying the annotation of genomic immunoglobulin and T cell receptor regions.Bioinformatics (Oxford, England) · 2026Article
- Immunoglobulin gene polymorphisms shape the naïve B-cell receptor repertoire; relevance to celiac disease.Genes and immunity · 2026Article
- Large-scale paired chain BCR analysis reveals antibody clonal family inference bias and enhances resolution with machine learning.PLoS computational biology · 2026Article
- Article
- Unraveling IGK locus in dog breeds: IMGTNAR genomics and bioinformatics · 2026Article
- Epigenetic-Genetic Coupling and Understanding the Molecular and Cellular Basis of Lamarckian Inheritance.International journal of molecular sciences · 2026Review
- The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.Cell genomics · 2026Article
- Population-level genomic analysis of immunoglobulin loci variation in rhesus macaques reveals extensive germline diversity.Immunity · 2026Article
- Germline polymorphisms in the immunoglobulin kappa and lambda loci underpinning antibody light chain repertoire variability.Nature communications · 2025Article
- Imputation disparities driven by recent selection and their impact on disease risk estimation in East and Southeast Asian populations.Communications biology · 2025Article
- The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.bioRxiv : the preprint server for biology · 2025Article
- Genotyping of selected germline adaptive immune system loci using short-read sequencing data.Genome research · 2025Article
- Challenges and future directions of AIRR-seq-based diagnostics.Immunoinformatics (Amsterdam, Netherlands) · 2025Article
- Comparative Analysis of Mammalian Adaptive Immune Loci Revealed Spectacular Divergence and Common Genetic Patterns.Molecular biology and evolution · 2025Article
- Human genetic variation shapes the antibody repertoire across B cell development.bioRxiv : the preprint server for biology · 2025Article
- ALIGaToR: A tool for the automated annotation of immunoglobulin and T cell receptor genomic loci.bioRxiv : the preprint server for biology · 2025Article
- Article
- Towards a sustainable, comprehensive and community-accepted nomenclature and naming standard of antibody and T cell receptor germline genes and alleles.Frontiers in immunology · 2025Article
- ALIGaToR: a tool for the automated annotation of immunoglobulin and T cell receptor genomic loci.Oxford open immunology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Immunoglobulins (IGs), critical components of the human immune system, are composed of heavy and light protein chains encoded at three genomic loci. The IG Kappa (IGK) chain locus consists of two large, inverted segmental duplications. The complexity of the IG loci has hindered use of standard high-throughput methods for characterizing genetic variation within these regions. To overcome these limitations, we use long-read sequencing to create haplotype-resolved IGK assemblies in an ancestrally diverse cohort (n = 36), representing the first comprehensive description of IGK haplotype variation. We identify extensive locus polymorphism, including novel single nucleotide variants (SNVs) and novel structural variants harboring functional IGKV genes. Among 47 functional IGKV genes, we identify 145 alleles, 67 of which were not previously curated. We report inter-population differences in allele frequencies for 10 IGKV genes, including alleles unique to specific populations within this dataset. We identify haplotypes carrying signatures of gene conversion that associate with SNV enrichment in the IGK distal region, and a haplotype with an inversion spanning the proximal and distal regions. These data provide a critical resource of curated genomic reference information from diverse ancestries, laying a foundation for advancing our understanding of population-level genetic variation in the IGK locus.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.