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

Multiple Allele Traits01:49

Multiple Allele Traits

35.9K
The Concept of Multiple Allelism
35.9K
Truncation in Survival Analysis01:09

Truncation in Survival Analysis

342
Truncation in survival analysis refers to the exclusion of individuals or events from the dataset based on specific criteria related to the time of the event. This exclusion can happen in two primary forms: left truncation and right truncation.
Left truncation occurs when individuals who experienced the event of interest before a certain time are not included in the study. This is often due to a "delayed entry" into the study where only those who survive until a certain entry point are...
342
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.8K
Incomplete Dominance01:43

Incomplete Dominance

26.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
26.6K
X-linked Traits01:19

X-linked Traits

55.8K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.8K
Polygenic Traits01:18

Polygenic Traits

67.0K
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...
67.0K

You might also read

Related Articles

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

Sort by
Same author

Genetic associations of high myopia.

The British journal of ophthalmology·2025
Same author

Treating Malignant Hypertension With the Low-Sodium, Low-Protein, and Low-Fat Rice Diet.

Hypertension (Dallas, Tex. : 1979)·2025
Same author

DRESS Syndrome in Patients With Drug-Induced Liver Injury: Characteristics and HLA Risk Factors.

The American journal of gastroenterology·2025
Same author

Resistance and resilience to Alzheimer's disease in Down syndrome.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2025
Same author

Modern perspective of the Rice Diet for hypertension and other metabolic diseases.

BMJ nutrition, prevention & health·2025
Same author

Bovine serum albumin-bound homologous targeted nanoparticles for breast cancer combinatorial therapy.

International journal of biological macromolecules·2024
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: Oct 13, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K

Precisely modeling zero-inflated count phenotype for rare variants.

Qiao Fan1, Shuming Sun2, Yi-Ju Li3

  • 1Duke-NUS Medical School, Centre for Quantitative Medicine, National University of Singapore, Singapore, Singapore.

Genetic Epidemiology
|November 15, 2021
PubMed
Summary
This summary is machine-generated.

We developed new gene association tests for genetic studies with many zeros, outperforming existing methods. These zero-inflated Poisson (ZIP) tests improve power for analyzing complex traits like Alzheimer's disease.

Keywords:
burden testkernel testrare variantzero-inflated count

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.9K

Related Experiment Videos

Last Updated: Oct 13, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.9K

Area of Science:

  • Genetics
  • Biostatistics
  • Neuroscience

Background:

  • Count data with excessive zeros are common in genetic association studies, particularly for complex traits like Alzheimer's disease (e.g., neuritic plaques).
  • Existing methods may not optimally handle the high prevalence of zeros in such genetic datasets.

Purpose of the Study:

  • To develop novel gene-based association tests specifically designed for count data with excessive zeros.
  • To improve the power and accuracy of genetic association analyses for complex diseases.

Main Methods:

  • Developed a mixture model combining Binomial and Poisson distributions to account for structural and biological zeros.
  • Derived score statistics within a zero-inflated Poisson (ZIP) regression framework.
  • Constructed ZIP-based burden (ZIP-b) and kernel (ZIP-k) association tests, including omnibus tests combining both.

Main Results:

  • Simulations showed the proposed ZIP tests offer potential power gains over traditional two-stage methods.
  • The ZIP burden test generally outperformed the ZIP kernel test, except when genetic effects had mixed directions.
  • Applied the ZIP tests to neuritic plaque data from the ROSMAP cohort, demonstrating practical utility.

Conclusions:

  • The proposed zero-inflated Poisson (ZIP) based gene association tests are effective for count data with excessive zeros.
  • These ZIP tests offer a more powerful or complementary alternative to existing two-stage methods for genetic association studies.
  • The methods are applicable to real-world data, such as in Alzheimer's disease research.