Abstract
Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
Highlights
Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits
DeBoever et al [6] report Copy number variation (CNV) expression quantitative trait loci (eQTL) in intergenic regions that can affect gene expression, and Carcamo-Orive et al [5] demonstrate that Polycomb target genes can contribute significantly to variability, suggesting that heterogeneity in Induced pluripotent stem cell (iPSC) can be independent of genetics
This work serves as an important foundation for utilizing iPSCs to test variants identified by genome-wide association studies, as iPSCs can be readily used to interrogate variations that have functional consequences which may be driving disease phenotypes [9]
Summary
Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits. The combinatorial approaches utilized by each of these three studies have the distinct benefit of being able to correlate specific genotypes to variations in gene expression levels and provide a resource that allows the prediction of the consequences of genetic changes on phenotype variation [8].
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