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

Mutational analysis using oligonucleotide microarrays.

J G Hacia1, F S Collins

  • 1Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Journal of Medical Genetics
|October 21, 1999
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 Conditional Mouse Knockout Resources.

Drug discovery today. Disease models·2024
Same author

FaceBase: A Community-Driven Hub for Data-Intensive Research.

Journal of dental research·2022
Same author

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.

Diabetologia·2011
Same author

Analysis of yeast artificial chromosome clones.

Methods in molecular biology (Clifton, N.J.)·2011
Same author

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.

Diabetologia·2010
Same author

DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.

Leukemia·2008
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

Oligonucleotide arrays enable high-throughput DNA sequencing for medical genetics. This technology is crucial for identifying single nucleotide polymorphisms and analyzing mutations in complex diseases.

Area of Science:

  • Molecular Biology
  • Medical Genetics
  • Genomics

Background:

  • The increasing focus on the molecular basis of complex multifactorial diseases necessitates advanced genetic analysis methods.
  • Accurate genetic maps and large-scale mutational analyses are vital for disease association studies and risk assessment.

Purpose of the Study:

  • To review the application of oligonucleotide arrays for hybridization-based comparative sequence analysis in medical genetics.
  • To highlight the technological advancements enabling diverse applications from single nucleotide polymorphism detection to large gene mutational analysis.

Main Methods:

  • Utilizing oligonucleotide arrays for hybridization-based comparative sequence analysis.
  • Reviewing published scientific reports and considering unpublished private sector work.

Related Experiment Videos

Main Results:

  • Oligonucleotide array technology has advanced significantly, enabling various medical genetics applications.
  • The technology facilitates the detection and scoring of single nucleotide polymorphisms and comprehensive mutational analyses.

Conclusions:

  • Oligonucleotide arrays are a powerful tool for advancing medical genetics research and clinical applications.
  • Continued technological development and integration of private sector innovations will shape the future of DNA sequence analysis.