ArticleiScience2021
Germline polymorphisms and alternative splicing of human immunoglobulin light chain genes.
Article in iScience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- GATHeR: graph-based accurate tool for immunoglobulin heavy- and light-chain reconstruction.Nature communications · 2026Article
- An integrated human immunoglobulin germline resource linking allele diversity to expressed repertoire structure.bioRxiv : the preprint server for biology · 2026Article
- Immunoglobulin gene polymorphisms shape the naïve B-cell receptor repertoire; relevance to celiac disease.Genes and immunity · 2026Article
- Germline polymorphisms in the immunoglobulin kappa and lambda loci underpinning antibody light chain repertoire variability.Nature communications · 2025Article
- Genotyping of selected germline adaptive immune system loci using short-read sequencing data.Genome research · 2025Article
- CloseRead: a tool for assessing assembly errors in immunoglobulin loci applied to vertebrate long-read genome assemblies.Genome biology · 2025Article
- An unbiased comparison of immunoglobulin sequence aligners.Briefings in bioinformatics · 2024Article
- Resolving haplotype variation and complex genetic architecture in the human immunoglobulin kappa chain locus in individuals of diverse ancestry.Genes and immunity · 2024Article
- IGHV allele similarity clustering improves genotype inference from adaptive immune receptor repertoire sequencing data.Nucleic acids research · 2023Article
- Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation.Genes and immunity · 2023Article
- AIRR-C IG Reference Sets: curated sets of immunoglobulin heavy and light chain germline genes.Frontiers in immunology · 2023Article
- T cell receptor beta germline variability is revealed by inference from repertoire data.Genome medicine · 2022Article
- Individualized VDJ recombination predisposes the available Ig sequence space.Genome research · 2021Article
- Immunoglobulin germline gene variation and its impact on human disease.Genes and immunity · 2021Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inference of germline polymorphisms in immunoglobulin genes from B cell receptor repertoires is complicated by somatic hypermutations, sequencing/PCR errors, and by varying length of reference alleles. The light chain inference is particularly challenging owing to large gene duplications and absence of D genes. We analyzed the light chain cDNA sequences from naïve B cell receptor repertoires from 100 individuals. We optimized light chain allele inference by tweaking parameters of the TIgGER functions, extending the germline reference sequences, and establishing mismatch frequency patterns at polymorphic positions to filter out false-positive candidates. We identified 48 previously unreported variants of light chain variable genes. We selected 14 variants for validation and successfully validated 11 by Sanger sequencing. Clustering of light chain 5'UTR, L-PART1, and L-PART2 revealed partial intron retention in 11 kappa and 9 lambda V alleles. Our results provide insight into germline variation in human light chain immunoglobulin loci.
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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.