Journal
TRENDS IN CELL BIOLOGY
Volume 28, Issue 1, Pages 46-57Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tcb.2017.09.006
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Funding
- NIH/NHLBI [U01 HL107440, NIH/NIDDDKR01DK097768-01]
- Harvard University
- Harvard Stem Cell Institute
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Induced pluripotent stem cells (iPSCs) are powerful tools for investigating the relationship between genotype and phenotype. Recent publications have described iPSC cohort studies of common genetic variants and their effects on gene expression and cellular phenotypes. These in vitro quantitative trait locus (QTL) studies are the first experiments in a new paradigm with great potential: iPSC-based functional population genetic studies. iPSC collections from large cohorts are currently under development to facilitate the next wave of these studies, which have the potential to discover the effects of common genetic variants on cellular phenotypes and to uncover the molecular basis of common genetic diseases. Here, we describe the recent advances in this developing field, and provide a road map for future in vitro functional population genetic studies and trial-in-a-dish experiments.
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