ArticleGenome research2008
DupMasker: a tool for annotating primate segmental duplications.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 58 citations in OpenAlex.
- HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.bioRxiv : the preprint server for biology · 2026Article
- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- A telomere-to-telomere map of somatic mutation burden and functional impact in cancer.bioRxiv : the preprint server for biology · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies.Bioinformatics (Oxford, England) · 2025Article
- Independent expansion, selection, and hypervariability of theGenome research · 2024Article
- NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads.Genome biology · 2024Article
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- Independent expansion, selection and hypervariability of thebioRxiv : the preprint server for biology · 2024Article
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- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
- The complete sequence of a human Y chromosome.Nature · 2023Article
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads.Bioinformatics (Oxford, England) · 2023Article
- Segmental duplications and their variation in a complete human genome.Science (New York, N.Y.) · 2022Article
- Fast characterization of segmental duplication structure in multiple genome assemblies.Algorithms for molecular biology : AMB · 2022Article
- An evolutionary driver of interspersed segmental duplications in primates.Genome biology · 2020Article
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- Fast characterization of segmental duplications in genome assemblies.Bioinformatics (Oxford, England) · 2018Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Segmental duplications (SDs) play an important role in genome rearrangement, evolution, and the copy-number variation (CNV) of primate genomes. Such sequences are difficult to detect, a priori, because they share no defining sequence features that distinguish them from unique portions of the genome. Current sequence annotation of segmental duplications requires computationally intensive, genome-wide self-comparisons that cannot be easily implemented on new data sets. Based on the successful implementation of RepeatMasker, we developed a new genome annotation tool, DupMasker. The program uses a library of nonredundant consensus sequences of human segmental duplications, wherein a majority of the ancestral origins have been determined based on comparisons to mammalian outgroup genomes. Using DupMasker, new human and nonhuman primate (NHP) sequences may be readily queried to provide details on the origin and degree of sequence identity of each duplicon. This program can be applied to delineate the order and orientation of duplicons within complex duplication blocks and used to characterize structural variation differences between sequenced human haplotypes. We predict this tool will be valuable in the annotation of large-insert sequence clones, allowing putative unique and duplicated regions of the genomes to be annotated prior to whole genome assembly comparisons.
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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.