Related Experiment Video
Updated: May 15, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms
1Department of Computational Biomedicine at Cedars-Sinai Medical Center, West Hollywood, CA 90069, United States.
Motivation:
Modern single-cell omics data are key to unraveling the complex mechanisms underlying risk for complex diseases revealed by genome-wide association studies (GWAS). Phenotypic screens in model organisms have several important parallels to GWAS which the author explores in this essay.
Results:
The author provides the historical context of such screens, comparing and contrasting similarities to association studies, and how these screens in model organisms can teach us what to look for. Then the author considers how the results of GWAS might be exhaustively interrogated to interpret the biological mechanisms underpinning disease processes. Finally, the author proposes a general framework for tackling this problem computationally, and explore the data, mechanisms, and technology (both existing and yet to be invented) that are necessary to complete the task.
Availability And Implementation:
There are no data or code associated with this article.
More Related Videos
14:06Mapping Bacterial Functional Networks and Pathways in Escherichia Coli using Synthetic Genetic Arrays
Published on: November 12, 2012
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Evolutionary Relationships through Genome Comparisons