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

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

Classification of Illness

Classification of Illness

The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

You might also read

Related Articles

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

Sort by

Same author

Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report.

Case reports in ophthalmology·2026

Same author

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

American journal of medical genetics. Part A·2026

Same author

Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous Chorioretinopathy.

Investigative ophthalmology & visual science·2026

Same author

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

iScience·2026

Same author

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Molecular syndromology·2026

Same author

Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Ophthalmic genetics·2026

Search research articles

Related Experiment Video

Updated: Feb 21, 2026

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

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

Published on: August 15, 2019

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Mathieu Quinodoz¹, Beryl Royer-Bertrand², Katarina Cisarova¹

¹Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland.

American Journal of Human Genetics

|October 7, 2017

Summary

Identifying dominant mutations for Mendelian disorders is challenging. DOMINO, a new tool, uses machine learning on gene features to accurately predict dominant disease genes, improving genetic analysis.

More Related Videos

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

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

Published on: August 20, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Feb 21, 2026

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

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

Published on: August 15, 2019

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

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

Published on: August 20, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

Genetics
Bioinformatics
Computational Biology

Background:

Distinguishing pathogenic dominant (monoallelic) mutations from benign variants in Mendelian disorders is difficult due to high background noise.
Next-generation sequencing (NGS) generates vast data, necessitating tools to filter false positives and identify causative genes.

Purpose of the Study:

To develop DOMINO, a novel computational tool to assess the likelihood of a gene harboring dominant mutations.
To enhance the accuracy of identifying genes responsible for Mendelian disorders using NGS data.

Main Methods:

DOMINO employs a machine-learning approach utilizing 432 gene-specific features (genomic, conservation, expression, interactions, structure).
The algorithm was trained on 985 genes with known inheritance patterns and validated using cross-validation and newly discovered pathogenic genes.

Main Results:

DOMINO achieved an excellent performance with an area under the curve (AUC) of 0.92 on validation data.
Unsupervised analysis identified known genes and predicted 9 novel candidate genes with high confidence in intellectual disability and epilepsy cohorts.

Conclusions:

DOMINO is a robust tool for inferring dominant candidate genes with high sensitivity and specificity.
It serves as a valuable complement to NGS pipelines for analyzing the human genome and identifying disease-causing genes.