Evidence map›Paper›PMID 30733445›Full record

ArticleNature communications2019

Mosaic deletion patterns of the human antibody heavy chain gene locus shown by Bayesian haplotyping.

Moriah Gidoni, Omri Snir, Ayelet Peres, Pazit Polak, Ida Lindeman, Ivana Mikocziova, Vikas Kumar Sarna, Knut E A Lundin, Christopher Clouser, Francois Vigneault and 3 more

Abstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed
–field-weighted citation impact
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

70 citing papers in PubMed.

  1. Characterization of immunoglobulin loci inNAR genomics and bioinformatics · 2026
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  11. IMGTNAR genomics and bioinformatics · 2025
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10 more citing papers are in PubMed but not listed here.

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

13 authors.

Moriah GidoniFaculty of Engineering, Bar Ilan University, 5290002, Ramat Gan, Israel.
Omri SnirKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.
Ayelet PeresFaculty of Engineering, Bar Ilan University, 5290002, Ramat Gan, Israel.
Pazit PolakFaculty of Engineering, Bar Ilan University, 5290002, Ramat Gan, Israel.
Ida LindemanKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.ORCID http://orcid.org/0000-0001-8343-2842
Ivana MikocziovaKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.
Vikas Kumar SarnaKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.
Knut E A LundinKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.
Christopher ClouserAbVitro, Inc, Boston, 02210, MA, USA.
Francois VigneaultAbVitro, Inc, Boston, 02210, MA, USA.
Andrew M CollinsSchool of Biotechnology and Biomolecular Sciences, University of NSW, Kensington, Sydney, NSW, 2052, Australia.
Ludvig M SollidKG Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372, Oslo, Norway.ORCID http://orcid.org/0000-0001-8860-704X
Gur YaariFaculty of Engineering, Bar Ilan University, 5290002, Ramat Gan, Israel. gur.yaari@biu.ac.il.ORCID http://orcid.org/0000-0001-9311-9884

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Analysis of antibody repertoires by high-throughput sequencing is of major importance in understanding adaptive immune responses. Our knowledge of variations in the genomic loci encoding immunoglobulin genes is incomplete, resulting in conflicting VDJ gene assignments and biased genotype and haplotype inference. Haplotypes can be inferred using IGHJ6 heterozygosity, observed in one third of the people. Here, we propose a robust novel method for determining VDJ haplotypes by adapting a Bayesian framework. Our method extends haplotype inference to IGHD- and IGHV-based analysis, enabling inference of deletions and copy number variations in the entire population. To test this method, we generated a multi-individual data set of naive B-cell repertoires, and found allele usage bias, as well as a mosaic, tiled pattern of deleted IGHD and IGHV genes. The inferred haplotypes may have clinical implications for genetic disease predispositions. Our findings expand the knowledge that can be extracted from antibody repertoire sequencing data.

Indexed as

Bayes TheoremAllelesDNA Copy Number VariationsGenotypeHaplotypesHumansImmunoglobulin Heavy ChainsImmunoglobulin Variable RegionImmunoglobulin Heavy ChainsImmunoglobulin Variable Region

Identifiers

PMID30733445
PMCPMC6367474

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Registered trials

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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.