Identifying regulatory genetic effects in pluripotent cells provides important insights into
disease variants with potentially transient or developmental origins. Combining existing and …

Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact
of genetic variants in derived cell types and developmental contexts. However, in their …

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 …

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 …

Recent advances in DNA sequencing technologies are revealing how human genetic
variations associate with differential health risks, disease susceptibilities, and drug …

Human genetic studies have revealed the molecular basis of countless monogenic diseases
but have been less successful in associating phenotype to genotype in complex multigenic …

Recent advances in DNA sequencing technologies and subsequent progress in genome-
wide association study (GWAS) are rapidly changing the landscape of human diseases. Our …

Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) hold tremendous
clinical potential because of their ability to self-renew, and to differentiate into all cell types of …

To understand the mutational burden of human induced pluripotent stem cells (iPSCs), we
sequenced genomes of 18 fibroblast-derived iPSC lines and identified different classes of …

Induced pluripotent stem cells (iPSCs) are powerful tools for investigating the relationship
between genotype and phenotype. Recent publications have described iPSC cohort studies …