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

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...

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Veröffentlicht in:	Nature genetics Jg. 53; H. 3; S. 313 - 321
Hauptverfasser:	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
Sprache:	Englisch
Veröffentlicht:	New York Nature Publishing Group US 01.03.2021 Nature Publishing Group
Schlagworte:	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
ISSN:	1061-4036, 1546-1718, 1546-1718
Online-Zugang:	Volltext
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