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

Detection rates for genotyping errors in SNPs using the trio design.

Frank Geller1, Andreas Ziegler

  • 1Institute of Medical Biometry and Epidemiology, Philipps-University of Marburg, Marburg, Germany.

Human Heredity
|March 11, 2003
PubMed
Summary

This study reveals higher genotyping error detection rates in transmission disequilibrium tests (TDT) than previously reported. Analyzing single nucleotide polymorphisms (SNPs) in trios, we found detection rates from 39-61%, suggesting improved error identification in genetic studies.

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

In Reply.

Deutsches Arzteblatt international·2026
Same author

Interpretation of Pharmacometabolomics Results: Fingerprint of Drug Exposure or Confounder Effects? Insights from a Urinary Metabolomics Study with Voriconazole in Healthy Participants.

International journal of molecular sciences·2026
Same author

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational study.

EClinicalMedicine·2026
Same author

Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus.

Biomolecules·2026
Same author

Confidence Intervals for Comparing Two Independent Folded Normals: A Case Study in Bunion Surgery.

Statistics in medicine·2026
Same author

Emulated Effects of Glucagon-Like Peptide 1 Receptor Agonist Therapy in the General Population.

Journal of the American College of Cardiology·2026

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Transmission Disequilibrium Tests (TDT) analyze genetic associations in families.
  • Genotyping errors in single nucleotide polymorphisms (SNPs) can bias TDT results.
  • Mendelian checks are crucial for detecting genotyping errors in trio studies.

Purpose of the Study:

  • To investigate the proportion of detected genotyping errors (detection rate) based on genotypes in trio studies.
  • To compare newly estimated SNP genotype error detection rates with previous findings.
  • To assess the impact of likely error structures on error detection rates.

Main Methods:

  • Analysis of single nucleotide polymorphisms (SNPs) in trios (affected child and parents).
  • Evaluation of genotyping error detection rates using Mendelian checks.

Related Experiment Videos

  • Modeling of error structures to estimate true error rates.

    • Main Results:

    • Higher SNP genotype error detection rates were observed, ranging from 39% to 61%.
    • These rates are substantially higher than the 25-30% reported by Gordon et al.
    • The study considered likely error structures in the data, influencing detection rates.

    Conclusions:

    • Current methods likely achieve higher genotyping error detection rates than previously estimated.
    • Accurate error rate estimation is critical for reliable transmission disequilibrium analysis.
    • Further research should consider genotype-based error structures for robust genetic association studies.