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

13.3K
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...
13.3K

You might also read

Related Articles

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

Sort by
Same author

Evaluating the feasibility of the CIPHER metadata framework towards building a conceptual phenotype standard.

JAMIA open·2026
Same author

Treatment and control of low-density lipoprotein for primary prevention in patients in Wales with and without depression: a study of whole-population electronic health records.

Open heart·2026
Same author

Correction: Suicide and self-harm in low- and middle- income countries during the COVID-19 pandemic: A systematic review.

PLOS global public health·2026
Same author

Towards a new model of population mental health research and policy translation in the UK: establishing a National consortium.

International journal of mental health systems·2026
Same author

Commercial or industrial use of mental health data for research: primer and best-practice guidelines from the DATAMIND patient/public Lived Experience Advisory Group.

Frontiers in psychiatry·2026
Same author

Exploring Shared and Unique Factors Linked to Adolescent Mental Health and Well-Being in a National Survey of 11-16 Year Olds in Wales.

The Journal of adolescent health : official publication of the Society for Adolescent Medicine·2026

Related Experiment Video

Updated: Jun 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

Creating a next-generation phenotype library: the health data research UK Phenotype Library.

Daniel S Thayer1, Shahzad Mumtaz2,3, Muhammad A Elmessary1

  • 1SAIL Databank, Medical School, Swansea University, Swansea, SA2 8PP, United Kingdom.

JAMIA Open
|June 19, 2024
PubMed
Summary
This summary is machine-generated.

Researchers can now find, access, and reuse electronic health record phenotyping algorithms through a new platform. This tool enhances reproducible health data research by standardizing algorithm management and accessibility.

Keywords:
algorithmsapplication programming interfaceelectronic health recordsmedical informaticsphenotypingpublic health informatics

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Related Experiment Videos

Last Updated: Jun 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Area of Science:

  • Health Informatics
  • Biomedical Research
  • Data Science

Background:

  • Reproducible research is crucial for advancing health data utilization.
  • Existing platforms lack comprehensive tools for managing and sharing electronic health record (EHR) phenotyping algorithms.
  • Standardization and accessibility of phenotyping algorithms are needed to scale health research.

Purpose of the Study:

  • To develop a platform enabling health data users to find, access, curate, and reuse EHR phenotyping algorithms at scale.
  • To create a centralized, accessible resource for managing and sharing complex health data analysis tools.

Main Methods:

  • Engaged stakeholders to define platform requirements.
  • Designed a web application incorporating a novel metadata standard for phenotyping algorithms.
  • Implemented features for API access, computable data flows, version control, and direct researcher submission.

Main Results:

  • Launched the Phenotype Library in October 2021, hosting 1049 phenotype definitions across 40 data sources and over 200,000 terms.
  • Demonstrated utility through case studies supporting research hubs and informatics tool development.
  • The platform provides structured metadata management, API access, and support for computable phenotypes.

Conclusions:

  • The Phenotype Library is the first openly available, programmatically accessible resource for managing phenotyping algorithms globally.
  • Removing barriers to sharing and computing phenotypes will unlock the potential of health data for public benefit.
  • This initiative promotes reproducible research and accelerates discoveries in patient and public health.