ArticlemedRxiv : the preprint server for health sciences2026
Complex structural variation, phylogeny, and disease associations of the mucin pangenome.
Elizabeth G Plender, Timofey Prodanov, Jiadong Lin, Isaac Wong, Julie Wertz, William W Gordon, Michael J Bamshad, Katherine M Munson, Wanda K O'Neal, Jesse D Bloom and 3 more
Abstract readPreprint
In one paragraphArticle in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
13 authors.
Elizabeth G PlenderDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-5063-8737 Timofey ProdanovInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.ORCID 0000-0001-7469-6651 Jiadong LinDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Isaac WongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Julie WertzDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
William W GordonDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Michael J BamshadDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Wanda K O'NealMarsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, 27599, North Carolina, USA.
Jesse D BloomDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-1267-3408 Human Pangenome Reference Consortium
Tobias MarschallInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.ORCID 0000-0002-9376-1030 Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014 Funding
Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, CHARLES LEE · 2019 to 2026
$17.2MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MAn Integrative Analysis of Structural Variation for the 1000 Genomes ProjectU41HG007497 · NHGRI · JACKSON LABORATORY · PI LEE, CHARLES · 2013 to 2017
$13.0MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MTools for comprehensive variant characterization using the pangenomeU01HG013748 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI LI, HENG, MARSCHALL, TOBIAS · 2024 to 2024
$1.7MNHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U01 HG013748NHGRI NIH HHS U24 HG007497NHGRI NIH HHS U41 HG007497
6 · The paper itselfAbstract
Mucins are large glycoproteins that provide hydration and barrier function to epithelial tissues. Although genetically heterogeneous, all mucins harbor a large exon composed of variable number tandem repeats (VNTRs). Short-read sequencing has limited our understanding of mucin VNTR diversity and makes disease association studies challenging. We leverage 296 long-read phased genome assemblies to characterize 14 mucin family members, achieving ≥97% accuracy across 572 haplotypes. Phylogenetic haplogroup analysis reveals extraordinary structural heterozygosity, with
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PMID42428052
PMCPMC13345508
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