Evidence map›Paper›PMID 36539592›Full record

ArticleGenes and immunity2023

Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation.

William S Gibson, Oscar L Rodriguez, Kaitlyn Shields, Catherine A Silver, Abdullah Dorgham, Matthew Emery, Gintaras Deikus, Robert Sebra, Evan E Eichler, Ali Bashir and 2 more

Open access · greenAbstract read
In one paragraph

Article in Genes and immunity, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
3.4field-weighted citation impact, top 6% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 47 citations in OpenAlex.

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  15. Challenges and future directions of AIRR-seq-based diagnostics.Immunoinformatics (Amsterdam, Netherlands) · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 5 institutions in 1 country.

William S GibsonDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA.ORCID 0000-0003-4262-4893
Oscar L RodriguezDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA.
Kaitlyn ShieldsDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA.
Catherine A SilverDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA.
Abdullah DorghamDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA.
Matthew EmeryIcahn Institute of Genomics Technology and Data Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gintaras DeikusIcahn Institute of Genomics Technology and Data Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robert SebraIcahn Institute of Genomics Technology and Data Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Ali BashirGoogle Accelerated Science Team, Google Inc, Mountain View, CA, USA.
Melissa L SmithDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA. ml.smith@louisville.edu.
Corey T WatsonDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville, KY, USA. corey.watson@louisville.edu.ORCID 0000-0001-7248-8787
University of Louisville · USIcahn School of Medicine at Mount Sinai · USGoogle (United States) · USHoward Hughes Medical Institute · USSema4 (United States) · US

Funding

An ethnically diverse genomic reference resource for the human heavy and light chain immunoglobulin lociR24AI138963 · NIAID · UNIVERSITY OF LOUISVILLE · PI Melissa Laird Smith, Corey Taylor Watson · 2018 to 2026
$5.5M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG010169NIAID NIH HHS R24 AI138963
6 · The paper itself

Abstract

Immunoglobulins (IGs), crucial components of the adaptive immune system, are encoded by three genomic loci. However, the complexity of the IG loci severely limits the effective use of short read sequencing, limiting our knowledge of population diversity in these loci. We leveraged existing long read whole-genome sequencing (WGS) data, fosmid technology, and IG targeted single-molecule, real-time (SMRT) long-read sequencing (IG-Cap) to create haplotype-resolved assemblies of the IG Lambda (IGL) locus from 6 ethnically diverse individuals. In addition, we generated 10 diploid assemblies of IGL from a diverse cohort of individuals utilizing IG-Cap. From these 16 individuals, we identified significant allelic diversity, including 36 novel IGLV alleles. In addition, we observed highly elevated single nucleotide variation (SNV) in IGLV genes relative to IGL intergenic and genomic background SNV density. By comparing SNV calls between our high quality assemblies and existing short read datasets from the same individuals, we show a high propensity for false-positives in the short read datasets. Finally, for the first time, we nucleotide-resolved common 5-10 Kb duplications in the IGLC region that contain functional IGLJ and IGLC genes. Together these data represent a significant advancement in our understanding of genetic variation and population diversity in the IGL locus.

Indexed as

Genes, ImmunoglobulinImmunoglobulin lambda-ChainsGenetic VariationGenomicsHumansNucleotidesImmunoglobulin lambda-ChainsNucleotides

Identifiers

PMID36539592
PMCPMC10041605
OpenAlexW4312067162

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.