What is GWAS?

Genome-wide association studies (GWAS) help us determine which of hundreds of thousands of genetic variants tested are associated with specific traits or diseases. Scientists perform GWAS by analyzing the genetic profiles of many individuals exhibiting distinct phenotypes and comparing their genetic profiles to those of the individuals that do not show that trait. These studies are becoming more and more popular – partly because of their affordability and somewhat because they enable us to analyze population genetics data of many individuals, which makes them more valuable in finding answers to questions like: »What genetics variants did we observe in a group of people who responded positive or negative to a drug in a trial?«, »Are genetic variants associated with heart disease the same in all populations?«, »What genetic variants associated with breast cancer do people of different ethnicities have in common – is it an appropriate target for the drug development?«.

The questions scientists are trying to answer with this approach are numerous and vital. However, the collected data is dispersed through many publications, and the parameters needed to conduct a meta-analysis of collected data are often missing from publications. Life-science community needs a centralized database to publish and organize GWAS studies and provide experimental guidelines to allow for automatized integration of collected data into a centralized database. Until then, we compiled a list of the most extensive and commonly used GWAS databases.

open science The cartoon from: "The Open Science Training Handbook (Chapter: Open Concepts and Principles)"