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

Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA.

Yaning Yang1, Jingshan Zhang, Josephine Hoh

  • 1Laboratory of Statistical Genetics, The Rockefeller University, New York, NY 10021, USA. yyang@linkage.rockefeller.edu

Proceedings of the National Academy of Sciences of the United States of America
|June 5, 2003
PubMed
Summary

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

Association between orthostatic blood pressure change and masked and white coat hypertension: the Nagahama study.

Journal of hypertension·2026
Same author

Machine learning-based clinical tool for identifying factors associated with symptomatic knee osteoarthritis: the Nagahama study.

The Knee·2026
Same author

Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population.

Circulation. Genomic and precision medicine·2026
Same author

Genome-Wide Meta-Analysis for High Myopia Provides Insights into Disease Mechanisms and Reveals a Causal Link to Primary Open-Angle Glaucoma.

Ophthalmology science·2026
Same author

Long-read KIR genotyping reveals donor KIR/HLA polymorphisms linked to posttransplant relapse in T-cell malignancies.

Blood advances·2026
Same author

Replication of the Association between Retinal Aging Clock Susceptibility Genes and Retinal Age Gap in an Asian Population: The Nagahama Study.

Ophthalmology science·2026

DNA pooling enhances single-nucleotide polymorphism (SNP) haplotype analysis efficiency by reducing genotyping assays. This method provides accurate haplotype frequency estimates, even with missing data, proving effective for genetic studies.

Area of Science:

  • Genetics
  • Bioinformatics
  • Statistical genomics

Background:

  • Single-nucleotide polymorphism (SNP) haplotype analysis is crucial for genetic studies.
  • Traditional genotyping assays can be costly and time-consuming.
  • DNA pooling offers a potential strategy to increase efficiency and reduce costs.

Purpose of the Study:

  • To develop and assess a method for estimating haplotype frequencies using DNA pooling.
  • To evaluate the efficiency and accuracy of DNA pooling for SNP haplotype analysis.
  • To investigate the impact of pool size on estimation uncertainty.

Main Methods:

  • Development of maximum likelihood estimation for haplotype frequencies with DNA pooling.
  • Assessment of estimation accuracy across various pool sizes.

Related Experiment Videos

  • Calculation and Monte Carlo evaluation of asymptotic variance-covariance for estimates.
  • Inclusion of methods to handle missing genotyping data.

    • Main Results:

    • DNA pooling significantly increases the efficiency of SNP haplotype analysis.
    • The developed method provides accurate maximum likelihood estimates of haplotype frequencies.
    • Estimation uncertainty increases with pool size (K), but remains manageable for practical applications.
    • Asymptotic variance estimates are accurate for moderately large pool sample sizes.
    • The method effectively handles missing genotype information.

    Conclusions:

    • DNA pooling is an efficient strategy for SNP haplotype frequency estimation.
    • The proposed methodology offers a robust approach for genetic analyses with reduced cost and effort.
    • This technique is applicable to real-world genetic data, such as SNPs in the angiotensinogen gene.