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

Genetic Variation

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Multiple Allele Traits

Multiple Allele Traits

Genomics

Genomics

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...

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

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

Sort by

Same author

Determinants of body mass index during early life: findings from an exposome-wide association study with follow-up replication and Mendelian randomization analyses.

Exposome·2026

Same author

Microbial named entity recognition and normalisation for AI-assisted literature review and meta-analysis.

Bioinformatics (Oxford, England)·2026

Same author

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics.

Clinical genetics·2026

Same author

A maturity model framework for federated networks of trusted research environments.

Frontiers in digital health·2026

Same author

Re: "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review".

Human genomics·2026

Same author

Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature.

The Journal of molecular diagnostics : JMD·2026

Search research articles

Related Experiment Video

Updated: Apr 6, 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

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access

Owen Lancaster¹, Tim Beck¹, David Atlan²

¹Department of Genetics, University of Leicester, Leicester, UK.

|July 31, 2015

Summary

Cafe Variome is a web-based tool for biomedical data discovery, connecting data owners with seekers. It facilitates secure sharing of genotype-phenotype data, promoting research and rare disease discovery.

Keywords:

Cafe Variome Matchmaker Exchange data discovery genotype-phenotype rare disease software

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: Apr 6, 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:

Biomedical Informatics
Genetics and Genomics
Data Science

Background:

Biomedical data sharing is crucial but faces significant challenges.
Existing data discovery methods often fail to connect data owners with seekers effectively.
Sensitive and safe data access requires specialized tools.

Purpose of the Study:

To introduce Cafe Variome, a general-purpose, web-based data discovery tool.
To enable genotype-phenotype data owners to make their data discoverable securely.
To facilitate connections between data owners and seekers for improved data sharing.

Main Methods:

Cafe Variome provides a user-friendly interface with a search box and a query builder.
The system accommodates diverse data fields, including ontologies for genotype and phenotype details.
It categorizes search results into openAccess, linkedAccess, and restrictedAccess.
An administrator interface allows for customized single-site or federated network configurations.

Main Results:

Cafe Variome successfully provides a 'shop window' for biomedical data.
The tool enables the formulation of elaborate queries for precise data discovery.
It supports various access levels for data, ensuring appropriate sharing.
Current applications include rare disease data discovery, patient matchmaking, and a Beacon Web service.

Conclusions:

Cafe Variome effectively addresses the challenges of biomedical data sharing through a robust discovery mechanism.
The tool promotes secure and appropriate access to sensitive genotype-phenotype data.
Its flexible architecture supports diverse use cases, enhancing biomedical research and patient care.