Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Dihybrid Crosses

Dihybrid Crosses

Hardy-Weinberg Principle

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.In the early 20th century,...

You might also read

Related Articles

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

Sort by

Same author

Impact of IV metoclopramide + diphenhydramine on post-concussion symptoms. A secondary analysis of data from an ED-based randomized study.

Headache·2026

Same author

Changes in Psychological States During Instrumented Biofeedback for Dyssynergic Defaecation and Fecal Incontinence Are Associated With Changes in Patient-Reported Outcomes.

Neurogastroenterology and motility·2026

Same author

Hurricanes, Neighborhood Disadvantage, and Cardiopulmonary Health in US Veterans.

JAMA network open·2026

Same author

Gastrointestinal Symptoms and Systemic Comorbidities in Patients With POTS: A Systematic Review and Meta-Analysis.

Neurogastroenterology and motility·2026

Same author

Symptom Patterns Outside the Rome IV Consensus in Eastern and Western Patients With a Disorder of Gut-Brain Interaction.

The American journal of gastroenterology·2026

Same author

Serological and faecal markers of irritable bowel syndrome: a systematic review and meta-analysis.

EBioMedicine·2026

Same journal

Comparative profiles of pediatric Mendeliome: A Single-Centre 572-Whole-Exome Sequencing Study in Xinjiang.

Human heredity·2026

Same journal

Erratum.

Human heredity·2026

Same journal

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

Human heredity·2025

Same journal

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Human heredity·2025

Same journal

Generalized Stable Population and Agent-Based Models of Phenotypic Transmission in Human Populations, with an Application to Body Size.

Human heredity·2025

Same journal

Proteinase-activated receptor 2 (PAR-2) expression and F2RL1 genetic variants are associated with asthma: a case-control study in the Chinese population.

Human heredity·2025

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Case-deletion diagnostics for maximum likelihood multipoint quantitative trait locus linkage analysis.

Maria C B Mendoza¹, Trudy L Burns, Michael P Jones

¹Department of Biostatistics, The University of Iowa, Iowa City, Iowa, USA. maria.mendoza@fda.hhs.gov

|January 28, 2009

Summary

This summary is machine-generated.

The empirical influence function (EIF) is a new, fast, and sensitive diagnostic tool for identifying influential outliers in quantitative trait locus (QTL) linkage analysis, improving genetic research accuracy.

More Related Videos

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

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

Published on: July 27, 2021

Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis

Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis

Published on: June 17, 2019

Related Experiment Videos

Last Updated: Jun 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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

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

Published on: July 27, 2021

Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis

Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis

Published on: June 17, 2019

Area of Science:

Genetics
Statistical genomics
Bioinformatics

Background:

Case-deletion diagnostics are crucial for identifying influential observations in statistical modeling.
Outliers can significantly impact parameter estimates and conclusions in quantitative trait locus (QTL) linkage analysis.
Accurate outlier detection is essential for reliable genetic association studies.

Purpose of the Study:

To develop and evaluate two novel case-deletion diagnostics: exact case deletion (ECD) and empirical influence function (EIF).
To detect outliers affecting sib-pair maximum likelihood QTL linkage analysis.
To assess the sensitivity and specificity of these diagnostics in simulation studies.

Main Methods:

Incorporated ECD and EIF subroutines into the MAPMAKER/SIBS linkage analysis program.
Conducted simulation studies using nuclear family data with introduced outliers.
Evaluated diagnostic performance based on sensitivity (correctly identified outliers) and specificity (correctly identified non-outliers).

Main Results:

EIF demonstrated high sensitivity, closely approximating ECD sensitivities for outlier-affected parameters.
Simulations revealed a substantial computational time advantage for the EIF over ECD.
Application to body mass index data successfully identified influential observations affecting lod scores and model parameters.

Conclusions:

The empirical influence function (EIF) is a practical and effective diagnostic tool for QTL linkage analysis.
EIF offers high sensitivity and significantly reduced computation time, making it advantageous.
This diagnostic aids in robust outlier detection, enhancing the reliability of genetic analyses.