ArticleGenome research2022
Short arms of human acrocentric chromosomes and the completion of the human genome sequence.
Article in Genome research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 32 citations in OpenAlex.
- Article
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- Telomere-to-telomere genome assembly of Oryza australiensis reveals transposon-driven centromere repositioning and shared EE-DD ancestry.Nature communications · 2026Article
- Genome-wide DNA methylation signatures in blood associated with pediatric obesity.Clinical epigenetics · 2026Article
- The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Determinants of chromosome-specific telomere lengths among 2573 All of Us participants.Nature communications · 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
- Detection of Human Brain Cancers using Genomic and Immune Cell Characterization of Cerebrospinal Fluid through CSF-BAM.Cancer discovery · 2025Article
- Optimization of DNA Fragmentation Techniques to Maximize Coverage Uniformity of Clinically Relevant Genes Using Whole Genome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Impacts of ribosomal RNA sequence variation on gene expression and phenotype.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- Holocentric repeat landscapes: From micro-evolutionary patterns to macro-evolutionary associations with karyotype evolution.Molecular ecology · 2024Article
- The GIAB genomic stratifications resource for human reference genomes.Nature communications · 2024Article
- Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control.Biometrical journal. Biometrische Zeitschrift · 2024Article
- Human telomere length is chromosome end-specific and conserved across individuals.Science (New York, N.Y.) · 2024Article
- Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.Scientific reports · 2024Article
- Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Article
- Churros: a Docker-based pipeline for large-scale epigenomic analysis.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The complete, ungapped sequence of the short arms of human acrocentric chromosomes (SAACs) is still unknown almost 20 years after the near completion of the Human Genome Project. Yet these short arms of Chromosomes 13, 14, 15, 21, and 22 contain the ribosomal DNA (rDNA) genes, which are of paramount importance for human biology. The sequences of SAACs show an extensive variation in the copy number of the various repetitive elements, the full extent of which is currently unknown. In addition, the full spectrum of repeated sequences, their organization, and the low copy number functional elements are also unknown. The Telomere-to-Telomere (T2T) Project using mainly long-read sequence technology has recently completed the assembly of the genome from a hydatidiform mole, CHM13, and has thus established a baseline reference for further studies on the organization, variation, functional annotation, and impact in human disorders of all the previously unknown genomic segments, including the SAACs. The publication of the initial results of the T2T Project will update and improve the reference genome for a better understanding of the evolution and function of the human genome.
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Registered trials
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.