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The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.

Cell genomics - 14 Jan 2026

Jana Uddalok, Rodriguez Oscar L, Lees William, Engelbrecht Eric, Vanwinkle Zach, Peres Ayelet, Gibson William S, Shields Kaitlyn, Schultze Steven, Dorgham Abdullah, Emery Matthew, Deikus Gintaras, Sebra Robert, Eichler Evan E, Yaari Gur, Smith Melissa L, Watson Corey T

Abstract excerpt

The human immunoglobulin heavy chain constant (IGHC) domain of antibodies (Abs) is responsible for effector functions critical to immunity. This domain is encoded by genes in the IGHC locus, where descriptions of genomic diversity remain incomplete. We utilized long-read sequencing to build an IGHC haplotype/variant catalog from 105 individuals of diverse ancestry. We discovered uncharacterized single-nucleotide...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41151584
DOI: 10.1016/j.xgen.2025.101058
PMCID: PMC12926203

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