Evidence map›Paper›PMID 30808649›Full record

ArticleLife science alliance2019

Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans.

Shishi Luo, Jane A Yu, Heng Li, Yun S Song

Open access · goldAbstract read
In one paragraph

Article in Life science alliance, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.4field-weighted citation impact, top 10% 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

25 citing papers in PubMed, 37 citations in OpenAlex.

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  11. COVID-19 Pandemic: Escape of Pathogenic Variants and MHC Evolution.International journal of molecular sciences · 2022
    Article
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  17. Trace Reconstruction Problems in Computational Biology.IEEE transactions on information theory · 2021
    Article
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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

4 authors at 3 institutions in 1 country.

Shishi LuoComputer Science Division, University of California, Berkeley, Berkeley, CA, USA.
Jane A YuComputer Science Division, University of California, Berkeley, Berkeley, CA, USA.
Heng LiDepartment of Biostatistics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-4874-2874
Yun S SongComputer Science Division, University of California, Berkeley, Berkeley, CA, USA yss@berkeley.edu.ORCID 0000-0002-0734-9868
University of California, Berkeley · USChan Zuckerberg Initiative (United States) · USHarvard University · US

Funding

Mathematical Models and Statistical Methods for Large-Scale Population GenomicsR01GM094402 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SONG, YUN S · 2010 to 2018
$2.2M
NIGMS NIH HHS R01 GM094402
6 · The paper itself

Abstract

The immunoglobulin heavy variable (IGHV) and T cell beta variable (TRBV) loci are among the most complex and variable regions in the human genome. Generated through a process of gene duplication/deletion and diversification, these loci can vary extensively between individuals in copy number and contain genes that are highly similar, making their analysis technically challenging. Here, we present a comprehensive study of the functional gene segments in the IGHV and TRBV loci, quantifying their copy number and single-nucleotide variation in a globally diverse sample of 109 (IGHV) and 286 (TRBV) humans from over a 100 populations. We find that the IGHV and TRBV gene families exhibit starkly different patterns of variation. In addition to providing insight into the different evolutionary paths of the IGHV and TRBV loci, our results are also important to the adaptive immune repertoire sequencing community, where the lack of frequencies of common alleles and copy number variants is hampering existing analytical pipelines.

Indexed as

Adaptive ImmunityAllelesBase SequenceDatabases, GeneticDNA Copy Number VariationsGene DuplicationGene FrequencyGene Rearrangement, beta-Chain T-Cell Antigen ReceptorGenetic LociGenome, HumanHaplotypesHumansImmunoglobulin Variable RegionMutationPolymorphism, Single NucleotideImmunoglobulin Variable Region

Identifiers

PMID30808649
PMCPMC6391684
OpenAlexW2949783062

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.