Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Segmental duplication density decrease with distance to human-mouse breaks of synteny.

Jesus Sainz1, Pavol Rovensky, Sigurjon A Gudjonsson

  • 1deCODE Genetics, Reykjavik, Iceland. sainz@decode.is

European Journal of Human Genetics : EJHG
|November 25, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genome-wide association study in 21,271 individuals identifies 9 novel loci associated with circulating CD34<sup>+</sup> hematopoietic stem and progenitor cell levels.

HemaSphere·2026
Same author

Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects.

Nature communications·2026
Same author

Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

Nature genetics·2026
Same author

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA.

medRxiv : the preprint server for health sciences·2026
Same author

Variant in a Taste Receptor Locus Tied to Changes in the Use of Insomnia Medication.

Biological psychiatry global open science·2026
Same author

Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition.

Human molecular genetics·2025
Same journal

Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network.

European journal of human genetics : EJHG·2026
Same journal

Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

European journal of human genetics : EJHG·2026
Same journal

When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants.

European journal of human genetics : EJHG·2026
Same journal

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026
Same journal

Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta.

European journal of human genetics : EJHG·2026
Same journal

Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.

European journal of human genetics : EJHG·2026
See all related articles

Segmental duplications, large recent genomic segments, are challenging to analyze. Their frequency in human and mouse genomes correlates with genomic instability near syntenic breaks.

Area of Science:

  • Genomics
  • Comparative Genomics
  • Bioinformatics

Background:

  • Segmental duplications (SDs) are large, nearly identical genomic sequences of recent origin.
  • They constitute up to 5% of the human genome and are implicated in genomic rearrangements and diseases.
  • Accurate characterization of SDs is crucial for understanding genome evolution and disease mechanisms.

Purpose of the Study:

  • To develop a rapid computational method for characterizing segmental duplications in human and mouse genomes.
  • To assess the variability of segmental duplication content across different genome assemblies.
  • To investigate the distribution patterns of segmental duplications in relation to syntenic regions and breakpoints.

Main Methods:

  • Development of a novel, rapid computational approach for segmental duplication analysis.

Related Experiment Videos

  • Application of the method to four distinct genome sequence assemblies for both human and mouse.
  • Comparative analysis of segmental duplication content and distribution across assembly versions.

    • Main Results:

    • Significant changes in segmental duplication content were observed across different mouse genome assemblies (0.2% to 4.5%).
    • Human genome assemblies showed variability in duplication content (3.5% to 4.8%), indicating assembly challenges.
    • Segmental duplications are enriched near syntenic discontinuities and decrease in frequency with distance from syntenic breakpoints in both species.

    Conclusions:

    • Cataloguing and assembling segmental duplications is challenging, necessitating careful consideration of assembly artifacts in comparative analyses.
    • The frequency of segmental duplications in human and mouse is strongly correlated with proximity to syntenic breaks, highlighting their role in genomic evolution.
    • These findings provide insights into the dynamic nature of segmental duplications and their impact on genome architecture.