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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.

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Updated: Jul 5, 2026

Reverse Dissection and DiceCT Reveal Otherwise Hidden Data in the Evolution of the Primate Face
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Reverse Dissection and DiceCT Reveal Otherwise Hidden Data in the Evolution of the Primate Face

Published on: January 7, 2019

DupMasker: a tool for annotating primate segmental duplications.

Zhaoshi Jiang1, Robert Hubley, Arian Smit

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

Genome Research
|May 27, 2008
PubMed
Summary
This summary is machine-generated.

DupMasker is a new tool for annotating segmental duplications (SDs) in primate genomes. It efficiently identifies these complex DNA sequences, aiding in understanding genome evolution and variation.

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Last Updated: Jul 5, 2026

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08:15

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Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

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Published on: February 17, 2017

Area of Science:

  • Genomics
  • Bioinformatics
  • Evolutionary Biology

Background:

  • Segmental duplications (SDs) are crucial for genome rearrangement and evolution in primates.
  • Detecting SDs is challenging due to their lack of unique sequence features.
  • Current annotation methods are computationally intensive and difficult to apply to new datasets.

Purpose of the Study:

  • To develop an efficient tool for annotating segmental duplications in primate genomes.
  • To facilitate the identification and characterization of duplicons and their origins.
  • To aid in the analysis of structural variations and genome assembly.

Main Methods:

  • Developed DupMasker, a genome annotation tool inspired by RepeatMasker.
  • Utilized a library of nonredundant human segmental duplication consensus sequences.
  • Incorporated ancestral origin data from mammalian outgroup genome comparisons.

Main Results:

  • DupMasker readily queries new human and nonhuman primate (NHP) sequences.
  • Provides details on the origin and sequence identity of each duplicon.
  • Enables delineation of duplicons within complex blocks and characterization of structural variations.

Conclusions:

  • DupMasker offers a valuable tool for annotating segmental duplications in primate genomes.
  • The tool simplifies the identification of complex genomic regions.
  • Predicts utility in annotating large-insert clones and pre-assembly analysis.