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

Pedigree Analysis01:35

Pedigree Analysis

90.2K
Overview
90.2K
Pleiotropy01:33

Pleiotropy

43.6K
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,...
43.6K
Phylogeny01:23

Phylogeny

63.6K
Phylogeny is concerned with the evolutionary diversification of organisms or groups of organisms. A group of organisms with a name is called a taxon (singular). Taxa (plural) can span different levels of the evolutionary hierarchy. For instance, the group containing all birds is a taxon (comprising the class Aves), and the group of all species of daisies (the genus Bellis) is a taxon. Phylogenies can likewise include just one genus (i.e., depict species relationships) or span an entire kingdom.
63.6K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

7.9K
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...
7.9K
Genomics02:02

Genomics

41.1K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
41.1K
Genetic Screens02:46

Genetic Screens

5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K

You might also read

Related Articles

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

Sort by
Same author

Pan-cell type continuous chromatin state annotation of all epigenomes from the International Human Epigenome Consortium.

Genome biology·2026
Same author

An Open-Source Deep Learning Framework for Automated Corneal Segmentation in Anterior Segment Optical Coherence Tomography With Cross-Device External Validation.

Cornea·2026
Same author

Integrating genetics, age and imaging to predict treatment outcomes in neovascular age-related macular degeneration: a proof-of-concept study.

Scientific reports·2026
Same author

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.

Nature communications·2025
Same author

Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Ophthalmology science·2025
Same journal

3DICE: Interpretable 3D Cross-Modal Learning for Drug-Target Interaction Prediction and Large-Scale Drug Discovery.

Bioinformatics (Oxford, England)·2026
Same journal

KASSPer: Kinase Active Site Structure Prediction using Protein and Ligand Language Models and Its Application to Virtual Screening.

Bioinformatics (Oxford, England)·2026
Same journal

IDR searcher: a search engine solution for public image resources.

Bioinformatics (Oxford, England)·2026
Same journal

KCFtools: Rapid alignment-free method for introgression screening and GWAS using k-mer profiles.

Bioinformatics (Oxford, England)·2026
Same journal

Meta2DB: Curated shotgun metagenomic feature sets and metadata for health state prediction.

Bioinformatics (Oxford, England)·2026
Same journal

conMItion: an R package adjusting confounding factors for associations in multi-omics.

Bioinformatics (Oxford, England)·2026
See all related articles

Related Experiment Video

Updated: Feb 28, 2026

Rapid Analysis and Exploration of Fluorescence Microscopy Images
11:41

Rapid Analysis and Exploration of Fluorescence Microscopy Images

Published on: March 19, 2014

12.8K

Pheno4J: a gene to phenotype graph database.

Sajid Mughal1, Ismail Moghul2, Jing Yu3

  • 1Globe View, London, EC4V 3PP, UK.

Bioinformatics (Oxford, England)
|June 22, 2017
PubMed
Summary
This summary is machine-generated.

Clinical genetic research requires efficient data management. A new graph database solution optimizes storage and querying of genetic and phenotypic data, aiding researchers.

More Related Videos

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

10.6K
Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons
09:21

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Published on: July 7, 2023

2.1K

Related Experiment Videos

Last Updated: Feb 28, 2026

Rapid Analysis and Exploration of Fluorescence Microscopy Images
11:41

Rapid Analysis and Exploration of Fluorescence Microscopy Images

Published on: March 19, 2014

12.8K
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

10.6K
Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons
09:21

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Published on: July 7, 2023

2.1K

Area of Science:

  • Genomics
  • Bioinformatics
  • Clinical Genetics

Background:

  • Clinical genetic research generates vast amounts of complex data.
  • Classical relational databases face challenges with data sparsity and volume.
  • Efficient data storage and querying are critical for research advancements.

Purpose of the Study:

  • To develop an efficient solution for storing and querying large-scale genetic and phenotypic data.
  • To abstract computational complexities, enabling researchers to focus on scientific discovery.
  • To provide a user-friendly interface for accessing and analyzing research data.

Main Methods:

  • Implementation of a Java-based solution utilizing a graph database.
  • Loading annotated genetic variants and phenotyped patient data into the database.
  • Development of an accompanying webserver with query endpoints.

Main Results:

  • The graph database enables fast and efficient storage and querying of structured genetic and phenotypic data.
  • The solution effectively addresses computational challenges posed by large datasets.
  • Researchers can focus on scientific interpretation rather than data management intricacies.

Conclusions:

  • A graph database approach offers a robust solution for managing clinical genetic data.
  • The developed system enhances the efficiency of genetic and phenotypic data analysis.
  • This facilitates progress in contemporary clinical genetic research by simplifying data accessibility.