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

Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...
Pedigree Analysis01:35

Pedigree Analysis

Overview

You might also read

Related Articles

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

Sort by
Same author

Genetic Risk Factors for Kidney Function in Individuals with Type 1 Diabetes.

Clinical journal of the American Society of Nephrology : CJASN·2026
Same author

Response to the Letter to the Editor Entitled "A Missing Genomic Dimension: The Small but Central Mitochondrial Genome in Diabetic Kidney Disease Genetics".

Kidney international reports·2026
Same author

Development of polyphenotypic scores to prioritize detection of G6PD rs1050828 carriers in African and African American populations.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Genetic Linkage for Bipolar Disorder to the Distal Region of Chromosome 19q: A Large Family Whole Genome Sequencing Study.

Bipolar disorders·2026
Same author

Insulin response to glucose and type 2 diabetes and its impact on cardiometabolic disease: a sex-stratified Mendelian randomization study to assess potential causality.

Canadian journal of diabetes·2026
Same author

Exome-Wide Analysis Identifies a Rare <i>EXD3</i> Missense Variant Associated With Diabetic Kidney Disease.

Kidney international reports·2026
Same journal

Applying Bayesian Multivariable Mendelian Randomisation to Prioritise Candidate Causal Traits From High-Dimensional Data: Illustration From Estimation of the Effect of Maternal Metabolites on Offspring Birthweight.

Genetic epidemiology·2026
Same journal

Individualized Bayesian Inference Identifies Novel Genetic Variants for Parkinson's Disease.

Genetic epidemiology·2026
Same journal

DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.

Genetic epidemiology·2026
Same journal

Deep Unsupervised Domain Adaptation for Translating Cancer Dependency Maps From Cell Lines to Breast Cancer Tumor Genomics.

Genetic epidemiology·2026
Same journal

Polygenic Risk Scores for Incident Dementia in the Multi-Ethnic Study of Atherosclerosis.

Genetic epidemiology·2026
Same journal

Outcome and Exposure Polygenic Risk Scores Can Help Reduce Information Bias and Selection Bias in Regression Estimates From Biobank Data.

Genetic epidemiology·2026
See all related articles

Related Experiment Video

Updated: Jun 18, 2026

Phenotypic Profiling of MPTP-Induced Parkinsonian-like Behavioral Phenotypes in Zebrafish Larvae Based on Behavioral Experiment
10:33

Phenotypic Profiling of MPTP-Induced Parkinsonian-like Behavioral Phenotypes in Zebrafish Larvae Based on Behavioral Experiment

Published on: May 15, 2026

Phenotype definition and development--contributions from Group 7.

Marsha A Wilcox1, Andrew D Paterson

  • 1Epidemiology, Johnson & Johnson Pharmaceutical Research and Development, LLC, Titusville, New Jersey 08560, USA. Mwilcox@its.jnj.com

Genetic Epidemiology
|November 20, 2009
PubMed
Summary
This summary is machine-generated.

Genetic Analysis Workshop 16 Group 7 explored biases in genetic association studies and developed a novel predictive test for type 2 diabetes. The test also aids in identifying miscalled single-nucleotide polymorphisms (SNPs).

More Related Videos

Visual and Microscopic Evaluation of Streptomyces Developmental Mutants
08:42

Visual and Microscopic Evaluation of Streptomyces Developmental Mutants

Published on: September 12, 2018

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

Related Experiment Videos

Last Updated: Jun 18, 2026

Phenotypic Profiling of MPTP-Induced Parkinsonian-like Behavioral Phenotypes in Zebrafish Larvae Based on Behavioral Experiment
10:33

Phenotypic Profiling of MPTP-Induced Parkinsonian-like Behavioral Phenotypes in Zebrafish Larvae Based on Behavioral Experiment

Published on: May 15, 2026

Visual and Microscopic Evaluation of Streptomyces Developmental Mutants
08:42

Visual and Microscopic Evaluation of Streptomyces Developmental Mutants

Published on: September 12, 2018

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

Area of Science:

  • Genetics
  • Biostatistics
  • Epidemiology

Background:

  • Investigated the impact of confounder misclassification and selection bias on genetic association study results.
  • Analyzed bias introduced by different methods for accounting for treatment effects in genetic analyses.
  • Explored various strategies for deriving phenotypic traits using related methods.

Framework:

  • Employed diverse analytical strategies for genetic associations, utilizing different sets of single-nucleotide polymorphisms (SNPs) and significance criteria, leading to non-overlapping findings.
  • Focused on transmission-ratio distortion as a key area of investigation.

Implementation:

  • A novel predictive test for type 2 diabetes was developed and validated using a well-characterized definition.
  • The study demonstrated the utility of the predictive test in identifying potentially miscalled SNPs as a secondary benefit.

Implications:

  • The findings highlight the importance of addressing various biases in genetic association studies.
  • The novel predictive test shows promise for improving type 2 diabetes diagnosis and SNP accuracy.
  • This work contributes to advancing methodologies in genetic epidemiology and biomarker discovery.