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

Ultra-high resolution array painting facilitates breakpoint sequencing.

S M Gribble1, D Kalaitzopoulos, D C Burford

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Journal of Medical Genetics
|September 15, 2006
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

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Nature communications·2022
Same author

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Nature communications·2019
Same author

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

European journal of medical genetics·2018
Same author

Assessing preschoolers interactive behaviour: A validation study of the "Coding System for Mother-Child Interaction".

Child: care, health and development·2018
Same author

Patient actions and reactions after receiving negative results from expanded carrier screening.

Clinical genetics·2018
Same author

New insights into sex chromosome evolution in anole lizards (Reptilia, Dactyloidae).

Chromosoma·2016
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

This study introduces ultra-high resolution array painting for rapid mapping of translocation breakpoints. This advanced method enables direct amplification and sequencing of rearrangement junction fragments, accelerating genetic analysis.

Area of Science:

  • Genomics
  • Molecular Biology
  • Cytogenetics

Background:

  • Translocation breakpoints are critical in genetic disorders.
  • Accurate mapping of these breakpoints is essential for diagnosis and research.
  • Existing methods can be time-consuming and lack resolution.

Observation:

  • A novel ultra-high resolution array painting technique was developed.
  • This method utilizes oligonucleotide arrays for high-resolution breakpoint region tiling.
  • Flow-sorted derivative chromosomes are used to generate hybridization probes.

Findings:

  • The new method rapidly and efficiently maps translocation breakpoints.
  • Rearrangement junction fragments can be directly amplified and sequenced.
  • Mapping and sequencing of breakpoints can be achieved in a few weeks using two array experiments.

Related Experiment Videos

Implications:

  • Accelerates the diagnosis and understanding of genetic rearrangements.
  • Facilitates further research into the functional consequences of translocations.
  • Provides a powerful tool for clinical genetics and personalized medicine.