Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

• Published in: Nature genetics Vol. 53; no. 3; pp. 313 - 321
• Main Authors: Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J., Frésard, Laure, Jakubosky, David, D’Antonio, Matteo, Li, Xin, Ferraro, Nicole M., Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D., Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B., Bonner, Devon E., Wheeler, Matthew T., Kilpinen, Helena, Knowles, Joshua W., Smith, Erin N., Frazer, Kelly A., Montgomery, Stephen B., Stegle, Oliver
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.03.2021; Nature Publishing Group
• Subjects: 38/39; 38/91; 45/100; 631/208/191/2018; 631/208/200; 631/532; Agriculture; Animal Genetics and Genomics; Bardet-Biedl Syndrome - genetics; Biomedical and Life Sciences; Biomedicine; Calcium Channels - genetics; Cancer Research; Cell Line; Cerebellar Ataxia - genetics; Disease; DNA Methylation; Gene Expression; Gene Function; Genetic aspects; Genetic diversity; Genetic regulation; Genetic research; Genetic variance; Genetic Variation; Genomes; Genotype & phenotype; Human Genetics; Humans; Induced Pluripotent Stem Cells - cytology; Induced Pluripotent Stem Cells - physiology; Pluripotency; Polymorphism, Single Nucleotide; Proteins - genetics; Quantitative Trait Loci; Rare diseases; Rare Diseases - genetics; Regulatory Sequences, Nucleic Acid; Sequence Analysis, RNA; Stem cells; Whole Genome Sequencing; United Kingdom

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 pluripotent state, the disease impact of genetic variants is less well known. Here, we integrate data from 1,367 human...