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Updated: Apr 27, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Population genetics for target identification
Daniel G Healy1, Patrick M Abou-Sleiman1, David B Goldstein2
1Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK WC1N 3BG.
Leveraging Human Genome Project data with population genetics can identify new drug targets for common diseases. This approach illuminates genetic variations and pathways for therapeutic intervention.
Area of Science:
- Genomics
- Pharmacology
- Population Genetics
Background:
- The Human Genome Project provides a foundation for understanding genetic contributions to disease.
- Identifying novel drug targets for complex diseases remains a significant challenge in medicine.
Purpose of the Study:
- To review strategies for utilizing Human Genome Project data to discover drug targets for common diseases.
- To highlight the role of population genetics in identifying disease-associated variants and therapeutic pathways.
Main Methods:
- Focus on population genetic approaches to identify disease-associated variants.
- Review of genome-wide association study designs and bioinformatic tools.
- Consideration of hypothesis-driven versus non-hypothesis-driven target identification.
Main Results:
- Population genetics offers powerful methods for pinpointing genetic variants linked to common diseases.
- New insights into human genetic variation patterns aid in target discovery.
- Advancements in bioinformatics enhance the analysis of large-scale genomic data.
Conclusions:
- Integrating Human Genome Project data with population genetic analyses is crucial for discovering novel drug targets.
- Understanding genetic variation provides a roadmap for developing targeted therapies for common diseases.
- Bioinformatic advancements are key to unlocking the potential of genomic data for drug development.
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