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 Concept Videos

Dihybrid Crosses01:18

Dihybrid Crosses

Overview
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

You might also read

Related Articles

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

Sort by
Same author

[Research on the evaluation of the automatic construction effectiveness of a flexible point cloud deformation algorithm for nasal prostheses].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology·2026
Same author

[Analysis of adjuvant chemotherapy efficacy based on GLUT1 expression levels after radical resection of pancreatic cancer].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2026
Same author

[Study on the consistency between the trajectory of small opening and closing movements and the empirical hinge axis movement of the mandibular incisal point of healthy individuals].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology·2026
Same author

[Clinical value of secondary surgical resection for recurrent or metastatic pancreatic cancer after initial surgery].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2026
Same author

[Arterial prophylactic occlusion technique in the application of surgery for locally advanced pancreatic cancer with arterial involvement after conversion therapy].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2024
Same author

The glass ceiling of endometriosis surgeons is research.

Facts, views & vision in ObGyn·2024

Related Experiment Video

Updated: Jun 22, 2026

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
13:55

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization

Published on: February 3, 2013

Linkage disequilibrium measures for fine-scale mapping: a comparison

S W Guo1

  • 1Division of Epidemiology, University of Minnesota, Minneapolis 55454-1015, USA. swguo@med.umn.edu

Human Heredity
|December 10, 1997
PubMed
Summary

Linkage disequilibrium mapping performance is affected by marker mutation and initial disequilibrium. Recurrent mutation impacts measures based on marker allele frequency, potentially rendering them useless.

Area of Science:

  • Genetics
  • Statistical Genetics

Background:

  • Linkage disequilibrium (LD) mapping is crucial for identifying disease-associated genetic loci.
  • Previous studies often simulated scenarios, but analytical frameworks provide deeper insights into measure performance.

Purpose of the Study:

  • To analytically evaluate the performance of simple linkage disequilibrium mapping measures.
  • To assess the impact of marker mutation and initial incomplete linkage disequilibrium on these measures.

Main Methods:

  • Calculated expected values for five LD mapping measures under various assumptions.
  • Utilized a framework for LD mapping, contrasting with simulation-based approaches.

Main Results:

  • Marker mutation's effect is relative to its magnitude and proximity to the disease locus (recombination fraction).

More Related Videos

Robust 3D DNA FISH Using Directly Labeled Probes
12:16

Robust 3D DNA FISH Using Directly Labeled Probes

Published on: August 15, 2013

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Related Experiment Videos

Last Updated: Jun 22, 2026

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
13:55

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization

Published on: February 3, 2013

Robust 3D DNA FISH Using Directly Labeled Probes
12:16

Robust 3D DNA FISH Using Directly Labeled Probes

Published on: August 15, 2013

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

  • Recurrent mutation at marker or disease loci makes measure performance dependent on marker allele frequency.
  • Initial incomplete linkage disequilibrium can render all evaluated measures ineffective.

    • Conclusions:

    • Analytical expected values clarify the performance limitations of LD mapping measures.
    • Understanding mutation and initial LD is critical for reliable genetic association studies.
    • The findings explain discrepancies observed in prior simulation studies.