Genetic effects on gene expression and splicing can be modulated by cellular and
environmental factors; yet interactions between genotypes, cell type, and treatment have not …

Unraveling the molecular processes that lead from genotype to phenotype is crucial for the
understanding and effective treatment of genetic diseases. Knowledge of the causative …

Genetic regulation of gene expression is dynamic, as transcription can change during cell
differentiation and across cell types. We mapped expression quantitative trait loci (eQTLs) …

Induced pluripotent stem cells (iPSCs) are an essential tool for studying cellular
differentiation and cell types that are otherwise difficult to access. We investigated the use of …

Background The discovery that somatic cells can be reprogrammed to induced pluripotent
stem cells (iPSCs) has provided a foundation for in vitro human disease modelling, drug …

The genetic basis of gene expression variation has long been studied with the aim to
understand the landscape of regulatory variants, but also more recently to assist in the …

Variability in induced pluripotent stem cell (iPSC) lines remains a concern for disease
modeling and regenerative medicine. We have used RNA-sequencing analysis and linear …

What is the significance of the extensive variability observed in individual members of a
single-cell phenotype? This question is particularly relevant to the highly differentiated …

The mechanisms by which DNA alleles contribute to disease risk, drug response, and other
human phenotypes are highly context-specific, varying across cell types and different …

Expression quantitative trait locus (eQTL) mapping provides a powerful means to identify
functional variants influencing gene expression and disease pathogenesis. We report the …