Patterns of segmental duplication in the human genome.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Molecular biology and evolution

• Publication date

  2004-09-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/MOLBEV/MSH262PMID 15371527
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Plasticity of human chromosome 3 during primate evolution.

  2004cited by this paper
• Does recombination shape the distribution and evolution of tandemly arrayed genes (TAGs) in the Arabidopsis thaliana genome?

  2003cited by this paper
• Segmental Duplications in the Human Genome

  2003cited by this paper
• Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

  2003influential reference
• An Alu transposition model for the origin and expansion of human segmental duplications.

  2003cited by this paper
• GS-Aligner: a novel tool for aligning genomic sequences using bit-level operations.

  2003cited by this paper
• The DNA sequence of human chromosome 7

  2003cited by this paper
• Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications.

  2003cited by this paper
• Segmental duplications and the evolution of the primate genome

  2002influential reference
• The complex structure and dynamic evolution of human subtelomeres

  2002cited by this paper
• Genome architecture, rearrangements and genomic disorders.

  2002cited by this paper
• Recent Segmental Duplications in the Human Genome

  2002influential reference
• On the abundance and distribution of transposable elements in the genome of Drosophila melanogaster.

  2002cited by this paper
• Initial sequencing and analysis of the human genome

  2001cited by this paper
• Positive selection of a gene family during the emergence of humans and African apes

  2001cited by this paper
• Segmental duplications: organization and impact within the current human genome project assembly.

  2001influential reference
• Birth of Two Chimeric Genes in the Hominidae Lineage

  2001cited by this paper
• The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

  2001cited by this paper
• Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

  2001cited by this paper
• The DNA sequence of human chromosome 21

  2000cited by this paper
• Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.

  1998cited by this paper

• Boundary-associated propagation of a processed pseudogene dissects pre-existing limitations of genome annotation in the T2T era.

  2026cites this paper
• Genomes from 117 vertebrate species reveal rapidly evolving segmental duplication landscapes

  2025cites this paper
• Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs).

  2023cites this paper
• An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon

  2023cites this paper
• Reconstruction of Segmental Duplication Rates and Associated Genomic Features by Network Analysis

  2023influential citation
• Emergence of distinct syntenic density regimes is associated with early metazoan genomic transitions

  2022cites this paper
• From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

  2022cites this paper
• A partial duplication of an X-linked gene exclusive of a Primate lineage (Macaca).

  2022cites this paper
• Modelling segmental duplications in the human genome

  2021cites this paper
• Palindromes in DNA—A Risk for Genome Stability and Implications in Cancer

  2021cites this paper
• OP-GTHE210226 1..10

  2021cites this paper
• GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque

  2021cites this paper
• Origin and evolution of the Rax homeobox gene by comprehensive evolutionary analysis

  2020cites this paper
• Circular DNA intermediates in the generation of large human segmental duplications

  2020cites this paper
• Intrinsic Disorder in Human Proteins Encoded by Core Duplicon Gene Families.

  2020cites this paper
• Frequency of copy number variants involving the sex chromosomes in a clinical setting

  2020influential citation
• Quantifying Influences on Intragenomic Mutation Rate

  2020cites this paper
• Human core duplicon gene families: game changers or game players?

  2019cites this paper
• The genomic architecture and molecular evolution of ant odorant receptors

  2018cites this paper
• Exploiting public human genome NGS datasets to characterize repetitive DNA and recover assembly gaps

  2018cites this paper
• Genome-Wide Identification and Characterization of WD40 Protein Genes in the Silkworm, Bombyx mori

  2018cites this paper
• Genome-Wide Identification and Characterization of Tyrosine Kinases in the Silkworm, Bombyx mori

  2018cites this paper
• Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH)

  2017cites this paper
• The genomic basis of species barriers in Heliconius butterflies

  2017cites this paper
• Functional Characterization of the Morpheus Gene Family

  2017cites this paper
• Livebearing or egg-laying mammals: 27 decisive nucleotides of FAM168.

  2017cites this paper
• Segmental duplications and evolutionary acquisition of UV damage response in the SPATA31 gene family of primates and humans

  2017cites this paper
• Analyzing Inverse Symmetry with Original and Terminal Sites of Prokaryotic Genome

  2016cites this paper
• DNA Copy Number Variation in a Cohort of Healthy Australian Women

  2016influential citation
• Functional Interpretation of High-Throughput Sequencing Data.

  2016cites this paper
• The comparative landscape of duplications in Heliconius melpomene and Heliconius cydno

  2016cites this paper
• Investigating the validity and significance of variant calls by next generation sequencing (NGS)

  2016cites this paper
• Development and validation of a next generation sequencing based microsatellite instability assay for routine clinical use

  2016cites this paper
• Genome-wide Analysis of WD40 Protein Family in Human

  2016cites this paper
• ARGOS8 variants generated by CRISPR‐Cas9 improve maize grain yield under field drought stress conditions

  2016cites this paper
• Investigating the Role of Gene Duplication in Ribosomal Protein Evolution and Testing a Model of Duplicate Gene Retention in Mammals

  2015cites this paper
• A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction

  2015influential citation
• The statistical fate of genomic DNA: modelling match statistics in different evolutionary scenarios

  2015cites this paper
• Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7

  2014cites this paper
• Mappability and read length

  2014cites this paper
• 5′RUNX1-3′USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications

  2014cites this paper
• Tempo and Mode of Gene Duplication in Mammalian Ribosomal Protein Evolution

  2014cites this paper
• Genome Resilience and Prevalence of Segmental Duplications Following Fast Neutron Irradiation of Soybean

  2014cites this paper
• The first report of a Pelecaniformes defensin cluster: Characterization of β-defensin genes in the crested ibis based on BAC libraries

  2014cites this paper
• Exhaustive Computation of Exact duplications via Super and Non-Nested Local Maximal repeats

  2014cites this paper
• Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome

  2013cites this paper
• Identification of segmental duplications in the human genome

  2013influential citation
• Orthologues, Paralogues and Horizontal Gene Transfer in the Human Holobiont

  2013cites this paper
• Purifying Selection Bias against Microsatellites in Gene Rich Segmental Duplications in the Rice Genome

  2012cites this paper
• Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes

  2012cites this paper
• Determinants of Exon-Level Evolutionary Rates in Arabidopsis Species

  2012cites this paper
• Mechanisms of Gene Duplication and Translocation and Progress towards Understanding Their Relative Contributions to Animal Genome Evolution

  2012cites this paper
• Genomic Structure and Evolution of Multigene Families: “Flowers” on the Human Genome

  2012cites this paper
• The first genetic maps for subterranean clover (Trifolium subterraneum L.) and comparative genomics with T. pratense L. and Medicago truncatula Gaertn. to identify new molecular markers for breeding

  2012influential citation
• What have studies of genomic disorders taught us about our genome?

  2012cites this paper
• Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region

  2012cites this paper
• Digital Agenesia in Martina Franca Donkey Foal: A Case Report

  2012cites this paper
• Evolutionary analysis of three gibberellin oxidase genes in rice, Arabidopsis, and soybean.

  2011cites this paper
• The pathogenicity of copy number variants in children with intellectual disability

  2011cites this paper
• The Expansion of the PRAME Gene Family in Eutheria

  2011cites this paper
• Algebraic Distribution of Segmental Duplication Lengths in Whole-Genome Sequence Self-Alignments

  2011cites this paper
• Repetitive DNA and next-generation sequencing: computational challenges and solutions

  2011cites this paper
• Insights into hominid evolution from the gorilla genome sequence Supplementary Information

  2011cites this paper
• Insights into the genomic features and evolutionary impact of the genes configuring duplicated pseudogenes in human

  2010cites this paper
• Footprints of X-to-Y gene conversion in recent human evolution.

  2010cites this paper
• Identification and annotation of full-length genes in Atlantic salmon (Salmo salar)

  2010cites this paper
• Segmental duplications in the human genome reveal details of pseudogene formation

  2010cites this paper
• High-throughput sequencing of microdissected chromosomal regions

  2010cites this paper
• Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

  2009cites this paper
• Sexy gene conversions: locating gene conversions on the X-chromosome

  2009cites this paper
• Repair-Mediated Duplication by Capture of Proximal Chromosomal DNA Has Shaped Vertebrate Genome Evolution

  2009cites this paper
• Duplication Mechanism and Disruptions in Flanking Regions Determine the Fate of Mammalian Gene Duplicates

  2009cites this paper
• Large-scale inference of the point mutational spectrum in human segmental duplications

  2009cites this paper
• Tandem repeats modify the structure of human genes hosted in segmental duplications

  2009cites this paper
• A prominent role for segmental duplications in modeling eukaryotic genomes.

  2009cites this paper
• Quantitative measure of randomness and order for complete genomes.

  2009cites this paper
• Mechanisms of change in gene copy number

  2009cites this paper
• Linkage Disequilibrium between Two High-Frequency Deletion Polymorphisms: Implications for Association Studies Involving the glutathione-S transferase (GST) Genes

  2009cites this paper
• Inverse Symmetry in Complete Genomes and Whole-Genome Inverse Duplication

  2009cites this paper
• Complex human chromosomal and genomic rearrangements.

  2009cites this paper
• Comparative analysis of copy number variation in primate genomes

  2009cites this paper
• De novo balanced chromosome rearrangements in prenatal diagnosis

  2009cites this paper
• Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

  2009cites this paper
• Genetic variation within the Daphnia pulex genome

  2009cites this paper
• Duplicated genes and their relevance in the process of speciation

  2009cites this paper
• The extensive and condition-dependent nature of epistasis among whole-genome duplicates in yeast.

  2008cites this paper
• Strong position-dependent effects of sequence mismatches on signal ratios measured using long oligonucleotide microarrays

  2008cites this paper
• Reduced purifying selection prevails over positive selection in human copy number variant evolution.

  2008cites this paper
• Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

  2008cites this paper
• Transposable Element‐driven Duplications during Hominoid Genome Evolution

  2008influential citation
• UNIVERSIDADE FEDERAL DE MINAS GERAIS

  2008cites this paper
• Duplication Mechanism and Disruptions in Flanking Regions Influence the Fate of Mammalian Gene Duplicates

  2008cites this paper
• Regulation of mammalian gene expression by retroelements and non‐coding tandem repeats

  2008cites this paper
• PRIMATE GENE AND GENOME EVOLUTION DRIVEN BY SEGMENTAL DUPLICATION ON CHROMOSOME 16

  2008cites this paper
• Ancient, recurrent phage attacks and recombination shaped dynamic sequence-variable mosaics at the root of phytoplasma genome evolution

  2008cites this paper
• Alternative splicing and exon duplication generates 10 unique porcine 5-HT 4 receptor splice variants including a functional homofusion variant.

  2008cites this paper
• Molecular mechanisms of chromosomal rearrangement during primate evolution

  2008influential citation
• Adaptive Evolution and Frequent Gene Conversion in the Brain Expressed X-Linked Gene Family in Mammals

  2008cites this paper
• Tandemly Arrayed Genes in Vertebrate Genomes

  2008cites this paper
• Studies of the Growth Hormone-Prolactin Gene Family and their Receptor Gene Family in Relation to Vertebrate Tetraploidizations

  2007cites this paper