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

Genome-wide Association Studies-GWAS01:11

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...

You might also read

Related Articles

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

Sort by
Same author

Twelve-year trends in sex and age of patients with COPD and chronic respiratory failure undergoing pulmonary rehabilitation.

European journal of internal medicine·2026
Same author

Why almost all ML models for medicine are wrong-and what we need for evidence-based medical AI.

International journal of medical informatics·2026
Same author

Evaluating large language models for structuring cardiology reports: a real-world clinical study on patient subtyping and trial recruitment.

International journal of medical informatics·2026
Same author

ViTMARE - A Vision Transformer Pipeline for Anomaly Detection in 3D Brain MRI.

Studies in health technology and informatics·2026
Same author

Environmental Personal Exposure Clusters to Investigate Multiple Sclerosis and Amyotrophic Lateral Sclerosis Progression.

Studies in health technology and informatics·2026
Same author

Machine Learning Prediction of Growth Hormone Response in Children Non-Growth Hormone-Deficient Short Stature.

Studies in health technology and informatics·2026

Related Experiment Video

Updated: Jun 19, 2026

A Web Tool for Generating High Quality Machine-readable Biological Pathways
08:01

A Web Tool for Generating High Quality Machine-readable Biological Pathways

Published on: February 8, 2017

Phenotypic and genotypic data integration and exploration through a web-service architecture.

Angelo Nuzzo1, Alberto Riva, Riccardo Bellazzi

  • 1Department of Computer Engineering and Systems Science, University of Pavia, Via Ferrata 1, Pavia, Italy. angelo.nuzzo@unipv.it

BMC Bioinformatics
|October 16, 2009
PubMed
Summary

This study introduces Phenotype Miner, a system for integrating genetic and phenotypic data to advance complex trait research. It facilitates hypothesis generation in genetics by linking diverse datasets for disease discovery.

More Related Videos

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

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

Related Experiment Videos

Last Updated: Jun 19, 2026

A Web Tool for Generating High Quality Machine-readable Biological Pathways
08:01

A Web Tool for Generating High Quality Machine-readable Biological Pathways

Published on: February 8, 2017

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

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

Area of Science:

  • Biomedical Informatics
  • Genetics Research
  • Computational Biology

Background:

  • Integrating genotypic and phenotypic data is a major challenge in genetics.
  • Complex trait analysis requires multifaceted phenotypes and genotypic data integration for disease discovery.
  • Biomedical Informatics aims to develop IT infrastructure for such integrated studies.

Purpose of the Study:

  • To describe the development of an IT system for managing, inspecting, and integrating phenotypic and genotypic data.
  • To present a software system for flexible phenotypic data management and genotype data retrieval.
  • To facilitate the integration of genotypic and phenotypic information for genetic studies.

Main Methods:

  • Developed a software system named Phenotype Miner.
  • Implemented a module for customized data upload.
  • Created a SOAP-based communication layer for data retrieval from biomedical knowledge management tools.
  • Integrated phenotypic data management with genotype data retrieval from external repositories.

Main Results:

  • The Phenotype Miner system enables flexible management of phenotypic information.
  • The system retrieves and relates genotype information to phenotypic data.
  • Demonstrated system functionality through an example application analyzing two genomic datasets.

Conclusions:

  • A comprehensive, integrated, and automated workbench for genotype and phenotype integration can enhance hypothesis generation in genetic studies.
  • The Phenotype Miner system supports the discovery of prevalent diseases by linking genetic and phenotypic data.
  • This approach improves the efficiency and effectiveness of modern genetic research.