Journal article

Combined single-cell profiling of expression and DNA methylation reveals splicing regulation and heterogeneity

Stephanie Linker, Lara Urban, Stephen Clark, Mariya Chhatriwala, Shradha Amatya, Davis McCarthy, Ingo Ebersberger, Ludovic Vallier, Wolf Reik, Oliver Stegle, Marc Jan Bonder

Published : 2018


Background Alternative splicing is a key regulatory mechanism in eukaryotic cells and increases the effective number of functionally distinct gene products. Using bulk RNA sequencing, splicing variation has been studied across human tissues and in genetically diverse populations. This has identified disease-relevant splicing events, as well as associations between splicing and genomic variations, including sequence composition and conservation. However, variability in splicing between single cells from the same tissue or cell type and its determinants remain poorly understood. Results We applied parallel DNA methylation and transcriptome sequencing to differentiating human induced pluripoten..

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