ArticleNature2023
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
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In one paragraph
Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 1 pooled it
42.9field-weighted citation impact, top 1% of its field
What it found
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- FertilitY Predictor-a machine learning-based web tool for the prediction of assisted reproduction outcomes in men with Y chromosome microdeletions.Journal of assisted reproduction and genetics · 2025Pooled it
- Recurrent deletions and regulatory disruption of the Y chromosome in cancer.Communications biology · 2026Article
- Pervasive Positive Selection on X-linked Ampliconic Genes in Primates.Genome biology and evolution · 2026Article
- Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Building and applying pangenome references to capture genetic diversity.Nature reviews. Genetics · 2026Review
- The TSPY gene and the loss of Y chromosome predisposition to cancers.Cell & bioscience · 2026Article
- Two melanic pigment patterns are associated with a sex chromosome-linked oncogene in the mountain swordtailbioRxiv : the preprint server for biology · 2026Article
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons.bioRxiv : the preprint server for biology · 2026Article
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Providing holistic care for patients with metabolic dysfunction-associated steatotic liver disease/metabolic dysfunction-associated steatohepatitis: Key aspects of clinical assessment and how to develop individualised care plans for surveillance and interventions.Diabetes, obesity & metabolism · 2026Review
- Divergent Amplification of Y-Linked Dosage-Sensitive Genes Triggers Regulatory Mismatch Underlying Cattle-Yak Male Sterility.Biomolecules · 2026Article
- Recurrent sex chromosome turnover mediated by distinct ARR17 and PISTILLATA duplications in willows.Genome biology · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Forensic applications of rapidly mutating Y-STR markers: current status and future perspectives.Forensic science, medicine, and pathology · 2026Review
- Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.medRxiv : the preprint server for health sciences · 2026Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors at 11 institutions in 4 countries.
Pille Hallast *The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0588-3987
Peter Ebert *Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0001-7441-532X
Mark Loftus *Department of Genetics & Biochemistry, Clemson University, Clemson, SC, USA.
Feyza YilmazThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Peter A AudanoThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-5187-0415
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Marc Jan BonderDivision of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Weichen ZhouDepartment of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0003-4755-1072
Wolfram HöpsGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Kwondo KimThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0001-8254-528X
Chong LiDepartment of Computer and Information Sciences, Temple University, Philadelphia, PA, USA.
Savannah J HoytDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0001-7804-3236
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2223-9787
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Fotios TsetsosThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Jee Young KwonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Qihui ZhuThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Patrick HasenfeldGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.ORCID 0000-0003-2319-2482
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Jennifer KordoskyDepartment 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.
Human Genome Structural Variation Consortium (HGSVC)
Rachel J O'NeillDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0002-1525-6821
Jan O KorbelGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Chris Tyler-SmithWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Xinghua ShiDepartment of Computer and Information Sciences, Temple University, Philadelphia, PA, USA.
Christine R BeckThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0001-7821-8489
Tobias MarschallInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0002-9376-1030
Miriam K KonkelDepartment of Genetics & Biochemistry, Clemson University, Clemson, SC, USA.
Charles LeeThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. charles.lee@jax.org.ORCID 0000-0001-7317-6662
Jackson Laboratory · USUniversity of Washington · USEuropean Molecular Biology Laboratory · DEUniversity of Connecticut · USCenter for Human Genetics · USHeinrich Heine University Düsseldorf · DETemple University · USHoward Hughes Medical Institute · USUniversity Medical Center Groningen · NLUniversity of Michigan · USWellcome Sanger Institute · GB
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9MIdentifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, Jan Oliver Korbel · 2019 to 2026
$17.2MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MStatistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MRepetitive sequences drive genome variation and plasticityR35GM133600 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Christine R Beck · 2019 to 2026
$3.0MThe Role of Retroelements in Centromere FunctionR01GM123312 · NIGMS · UNIVERSITY OF CONNECTICUT STORRS · PI O'NEILL, RACHEL · 2019 to 2022
$1.9MMobile element mutagenesis as a driver of human cancersR01CA261934 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI Scott E Devine · 2022 to 2026
$1.7MRepresenting structural haplotypes and complex genetic variation in pan-genome graphsU01HG010973 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CHAISSON, MARK, EICHLER, EVAN · 2020 to 2023
$1.3ML1 element mutagenesis as a driver of epithelial cancers in African AmericansR21CA259309 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2022 to 2023
$394kHuman centromere variation and functionK99GM147352 · NIGMS · UNIVERSITY OF WASHINGTON · PI LOGSDON, GLENNIS AMELIA · 2022 to 2022
$100kNCI NIH HHS P30 CA034196NCI NIH HHS R01 CA261934NCI NIH HHS R21 CA259309NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U01 HG010973NHGRI NIH HHS U24 HG007497NIGMS NIH HHS K99 GM147352NIGMS NIH HHS P20 GM139769NIGMS NIH HHS R01 GM123312NIGMS NIH HHS R35 GM133600Wellcome Trust
Abstract
The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date
Indexed as
Chromosomes, Human, YEvolution, MolecularChromosomes, Human, XEuchromatinGenetic VariationGenome, HumanGenomicsHumansMaleMutation RatePhenotypePseudoautosomal RegionsPseudogenesEuchromatin
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