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Humanity in a Dish: Population Genetics with iPSCs.
Curtis R Warren1, Chad A Cowan2
1Division of Cardiovascular Medicine, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
Trends in Cell Biology
|October 22, 2017
Summary
Induced pluripotent stem cells (iPSCs) enable new population genetic studies by linking genotypes to cellular phenotypes. Future iPSC collections will advance understanding of common genetic variants and disease mechanisms.
Area of Science:
- Genetics
- Stem Cell Biology
- Genomics
Background:
- Induced pluripotent stem cells (iPSCs) are valuable for studying genotype-phenotype relationships.
- Recent studies utilize iPSC cohorts for in vitro quantitative trait locus (QTL) analyses.
- This represents a new paradigm in functional population genetics.
Purpose of the Study:
- To review advances in iPSC-based functional population genetic studies.
- To outline a roadmap for future research in this field.
- To explore the potential of iPSC studies for uncovering genetic variant effects and disease mechanisms.
Main Methods:
- Leveraging iPSC collections from large human cohorts.
- Performing in vitro quantitative trait locus (QTL) studies.
- Analyzing gene expression and cellular phenotypes.
Main Results:
- iPSC-derived cellular phenotypes can be linked to common genetic variants.
- This approach facilitates the discovery of molecular underpinnings of genetic diseases.
- In vitro QTL studies are emerging as a powerful tool.
Conclusions:
- iPSC-based functional population genetics offers a novel approach to understanding genetic variation.
- Large-scale iPSC collections are crucial for future discoveries.
- This field holds promise for personalized medicine and disease research.
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