ArticleNature2025
The formation and propagation of human Robertsonian chromosomes.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
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Who cites it
23 citing papers in PubMed.
- A complete genome for the common marmoset.Cell · 2026Article
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- AniAnn's: alignment-free annotation of tandem repeat arrays using fast average nucleotide identity estimates.Bioinformatics (Oxford, England) · 2026Article
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- Z-DNA-induced genomic instability in the human pangenome.Research square · 2026Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026Article
- Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes.bioRxiv : the preprint server for biology · 2026Article
- Origin and evolution of acrocentric chromosomes in human and great apes.bioRxiv : the preprint server for biology · 2025Article
- Human acrocentric chromosome short armbioRxiv : the preprint server for biology · 2025Article
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- A global view of human centromere variation and evolution.bioRxiv : the preprint server for biology · 2025Article
- The Role of Transient Crosslinks in the Chromatin Search Response to DNA Damage.International journal of molecular sciences · 2025Article
- Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Comparative analysis of single-stranded and non-canonical DNA formation in human and other ape cells with telomere-to-telomere genomes.bioRxiv : the preprint server for biology · 2025Article
- Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.Medicina (Kaunas, Lithuania) · 2025Review
- A complete diploid human genome benchmark for personalized genomics.bioRxiv : the preprint server for biology · 2025Article
- Verkko2 integrates proximity-ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffolding.Genome research · 2025Article
Corrections and comments
- Update of
Authors and funding
20 authors.
Leonardo Gomes de Lima *Stowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-6340-6065
Andrea Guarracino *Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0001-9744-131X
Sergey Koren *Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Tamara PotapovaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-2761-1795
Sean McKinneyStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0002-9740-6247
Arang RhieGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9809-8127
Steven J SolarGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Chris SeidelStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-9218-7922
Brandon L FagenStowers Institute for Medical Research, Kansas City, MO, USA.
Brian P WalenzGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8431-1428
Gerard G BouffardNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8744-6440
Shelise Y BrooksNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Michael PetersonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0002-5015-5209
Kate HallStowers Institute for Medical Research, Kansas City, MO, USA.
Juyun CrawfordGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0006-4430-7751
Alice C YoungNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Brandon D PickettGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8235-4440
Erik GarrisonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu.ORCID 0000-0003-3821-631X
Adam M PhillippyGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.ORCID 0000-0003-2983-8934
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA. jeg@stowers.org.ORCID 0000-0003-0743-3637
Funding
Pangenomics of nicotine abuse in the hybrid rat diversity panelU01DA057530 · NIDA · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI Hao Chen, BURT M SHARP · 2023 to 2026
$2.8MA compendium of complete primate reference genomes to facilitate conservation, genomics, and ecologyR01HG013017 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Erik Garrison, Matthew William Mitchell · 2023 to 2026
$1.9MMaintaining the integrity of a genomeR01CA266339 · NCI · STOWERS INSTITUTE FOR MEDICAL RESEARCH · PI JENNIFER L GERTON · 2022 to 2026
$1.9MNCI NIH HHS R01 CA266339NHGRI NIH HHS R01 HG013017NIDA NIH HHS U01 DA057530
Abstract
Robertsonian chromosomes are a type of variant chromosome that is commonly found in nature. Present in 1 in 800 humans, these chromosomes can underlie infertility, trisomies and increased cancer incidence
Indexed as
Chromosomes, HumanTranslocation, GeneticAnimalsCentromereChromosome BreakpointsChromosomes, Human, Pair 14FemaleGenome, HumanHumansKinetochoresMaleMeiosisPan troglodytes
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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.