ArticleNature2023
Increased mutation and gene conversion within human segmental duplications.
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Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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75citing papers in PubMed
33.5field-weighted citation impact, top 1% of its field
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Who cites it
75 citing papers in PubMed, 107 citations in OpenAlex.
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- Pangenome-based structural variant imputation enables large-scale genotype-phenotype studies in dairy cattle.Nature communications · 2026Article
- De Bruijn graphs for pangenomics: in-depth performance benchmarking of de Bruijn graph-based tools for read mapping.Briefings in bioinformatics · 2026Article
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- Genomes From 117 Vertebrate Species Reveal Rapidly Evolving Segmental-Duplication Landscapes.Genome biology and evolution · 2026Article
- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Quantifying the Influence of Genetic Context on Duplicated Mammalian Genes.Molecular biology and evolution · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Gene conversion is a key driver of diversity hotspots inbioRxiv : the preprint server for biology · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.bioRxiv : the preprint server for biology · 2026Article
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- Benchmarking within-sample minority variant detection with short-read sequencing inbioRxiv : the preprint server for biology · 2026Article
- Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle.Nature communications · 2026Article
- Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation.Cell genomics · 2026Article
- Machine learning-based prediction of human structural variation and characterization of associated sequence determinants.bioRxiv : the preprint server for biology · 2026Article
- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 20 institutions in 9 countries.
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8651-1615
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2223-9787
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
William S DeWittDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Xavi GuitartDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Michael E GoldbergDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Julian LucasUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
Mobin AsriUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
Human Pangenome Reference Consortium
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Benedict PatenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-8863-3539
Kelley HarrisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0302-2523
PingHsun HsiehDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8294-6227
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.ORCID 0000-0002-8246-4014
University of California, Santa Cruz · USUniversity of Washington · USNational Institutes of Health · USEuropean Bioinformatics Institute · GBGoogle (United States) · USHeinrich Heine University Düsseldorf · DEJames S. McDonnell Foundation · USUniversity of Tennessee Health Science Center · USNational Institute of Standards and Technology · USHarvard University · USHoward Hughes Medical Institute · USRockefeller University · USJohns Hopkins University · USStanford University · USUniversity of Southern California · USWashington University in St. Louis · USWellcome Sanger Institute · GBYale University · USAl Jalila Foundation · AEChildren's Hospital of Philadelphia · US
Funding
The AnVIL Data Ecosystem DACReS SupplementU24HG010262 · NHGRI · BROAD INSTITUTE, INC. · PI Robert J Carroll, Jonathan Lawson · 2018 to 2026
$40.5MELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4MGENCODE: comprehensive reference genome annotation for human and mouseU24HG007234 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Fergal James Martin · 2021 to 2026
$16.1MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MMedical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9MInvestigating the landscape and genetic architecture of germline mutagenesisR35GM133428 · NIGMS · UNIVERSITY OF WASHINGTON · PI Kelley Harris · 2019 to 2026
$2.8MEnabling Comparative PangenomicsR01HG010485 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, MARTIN, FERGAL JAMES · 2020 to 2023
$2.6MRepresenting structural haplotypes and complex genetic variation in pan-genome graphsU01HG010973 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CHAISSON, MARK, EICHLER, EVAN · 2020 to 2023
$1.3MThe fitness effects of de novo structural variantsR00HG011041 · NHGRI · UNIVERSITY OF MINNESOTA · PI HSIEH, PINGHSUN · 2023 to 2025
$729kThe fitness effects of de novo structural variantsK99HG011041 · NHGRI · UNIVERSITY OF WASHINGTON · PI HSIEH, PINGHSUN · 2020 to 2021
$264kEvolutionary dynamics of antibody affinity maturationF31AI150163 · NIAID · FRED HUTCHINSON CANCER RESEARCH CENTER · PI DEWITT, WILLIAM S. · 2020 to 2022
$113kNHGRI NIH HHS K99 HG011041NHGRI NIH HHS R00 HG011041NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010485NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U01 HG010973NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG010262NIAID NIH HHS F31 AI150163NIGMS NIH HHS R35 GM133428NIGMS NIH HHS T32 GM007454
Abstract
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data
Indexed as
Gene ConversionMutationSegmental Duplications, GenomicCpG IslandsCytosineExonsGenome, HumanGuanineHaplotypesHumansPolymorphism, Single NucleotideCytosineGuanine
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