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

17.1K
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...
17.1K
Analysis of Population Pharmacokinetic Data01:12

Analysis of Population Pharmacokinetic Data

955
Analysis of population pharmacokinetic data involves studying the behavior of drugs within diverse populations to understand their pharmacokinetic parameters. Traditional pharmacokinetic methods typically involve collecting samples from a few individuals and estimating these parameters. While these methods are commonly used, they have limitations in capturing the variability in drug response among individuals or heterogeneous populations. Population pharmacokinetics is employed to address these...
955
Observational Studies01:11

Observational Studies

11.6K
Observational studies are a type of analytical study where researchers observe events without any interventions. In other words, the researcher does not influence the response variable or the experiment's outcome.
There are three types of observational studies – Prospective, retrospective, and cross-sectional.
Prospective Study
Prospective studies, also known as longitudinal or cohort studies, are carried out by collecting future data from groups sharing similar characteristics. One...
11.6K
Human Genetics01:28

Human Genetics

1.9K
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...
1.9K
Data Collection by Observations01:08

Data Collection by Observations

15.8K
Data collection refers to a systematic way of obtaining, observing, measuring, and analyzing accurate information. Observational studies are one of the most widely used methods of data collection. It involves collecting data by observing the behavior and physical characteristics of a sample without making any modifications to the sample.
An astronomer viewing the motion and brightness of stars in the sky and recording the data is an example of observational data collection. A botanist recording...
15.8K
Genomics02:02

Genomics

42.0K
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...
42.0K

You might also read

Related Articles

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

Sort by
Same author

Automated monitoring in clinical and operational workflows.

BMJ health & care informatics·2026
Same author

Somatoform Disorders Affect Decision-making of Breast Reconstruction Post-Mastectomy of Breast Cancer Patients: A Comparative Hazard Analysis.

Aesthetic plastic surgery·2026
Same author

An evidence gap map of digital health interventions for enhancing patient engagement in healthcare.

NPJ digital medicine·2026
Same author

Real-world data analysis of cranial nerve III, IV, and VI palsies: demographics, association factors, and comparative all-cause mortality.

BMC ophthalmology·2026
Same author

Retraction notice to "Applying spectral analysis to the arterial pulse to discriminate cardiovascular side effects following administration of Moderna's mRNA-1273 vaccine" [Eur. J. Pharmacol. 1007 (2025) 178269].

European journal of pharmacology·2026
Same author

Enhancing Unsupervised Segmentation Frameworks for Volumetric Medical Images via Superpixel Segmentation and Agglomerative Clustering.

Studies in health technology and informatics·2026

Related Experiment Video

Updated: Apr 17, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

5.1K

Profiling phenome-wide associations: a population-based observational study.

Shabbir Syed-Abdul1, Max Moldovan2, Phung-Anh Nguyen1

  • 1Graduate Institute of Biomedical Informatics, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.

Journal of the American Medical Informatics Association : JAMIA
|February 7, 2015
PubMed
Summary

This study mapped phenome-wide associations across Taiwan

Keywords:
associationdisease complicationselectronic health recordsphenotype

More Related Videos

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

10.9K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.2K

Related Experiment Videos

Last Updated: Apr 17, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

5.1K
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

10.9K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.2K

Area of Science:

  • Population health
  • Genomics
  • Medical informatics

Background:

  • Phenome-wide association studies (PheWAS) are crucial for understanding complex disease relationships.
  • Previous PheWAS have been limited by sample size and scope.
  • A comprehensive characterization of phenome-wide associations in a large, diverse population is needed.

Purpose of the Study:

  • To objectively characterize phenome-wide associations in the entire Taiwanese population.
  • To create a meaningful and interpretable representation of these associations.
  • To validate the findings through correlation analysis.

Main Methods:

  • Population-based observational study using Taiwan's National Health Insurance Research Database.
  • Analysis of 782 million outpatient visits and 15,394 unique phenotypes.
  • Stratification into 20 gender-age groups, generating millions of pairwise odds ratios.

Main Results:

  • Generated 28.8 million pairwise odds ratios for males and 31.8 million for females.
  • Online database of associations available at http://associations.phr.tmu.edu.tw.
  • Correlation analysis confirmed expected patterns: strong associations between adjacent age groups, declining with age distance, and diverging across genders.

Conclusions:

  • The study validates the comprehensive phenome-wide association database.
  • Findings confirm the predictive validity of disease association patterns across age and gender.
  • Further analyses will enhance understanding and support personalized medicine for concomitant diseases.