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PhD thesis

License MIT

Author

Anna Cuomo

Title

Using single-cell RNA-seq to assess the effect of common genetic variants on gene expression during development

Supervisors

Oliver Stegle, John Marioni

How to cite this thesis

The work presented in this thesis has been done by me in collaboration with the persons listed in each section. When using to information of this thesis, please cite the associated papers:

Chapter 3: Optimizing expression quantitative trait locus mapping workflows for single-cell studies

Anna S.E. Cuomo*, Giordano Alvari*, Christina B. Azodi*, single-cell eQTLGen consortium, Davis J. McCarthy, Marc Jan Bonder.

Optimizing expression quantitative trait locus mapping workflows for single-cell studies. Genome Biology, 2021, (* equal contributions)

Chapter 4: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Anna S.E. Cuomo*, Daniel D. Seaton*, Davis J. McCarthy*, Iker Martinez, Marc Jan Bonder, Jose Garcia-Bernardo, Shradha Amatya, Pedro Madrigal, Abigail Isaacson, Florian Buettner, Andrew Knights, Kedar Nath Natarajan, HipSci Consortium, Ludovic Vallier, John C. Marioni, Mariya Chhatriwala, Oliver Stegle.

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications, 2020, (* equal contributions)

Chapter 5: Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation

Julie Jerber*, Daniel D. Seaton*, Anna S.E. Cuomo*, Natsuhiko Kumasaka, James Haldane, Juliette Steer, Minal Patel, Daniel Pearce, Malin Andersson, Marc Jan Bonder, Ed Mountjoy, Maya Ghoussaini, Madeline A. Lancaster, HipSci Consortium, John C. Marioni, Florian T. Merkle, Oliver Stegle, Daniel J. Gaffney.

Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation. Nature Genetics, 2021, (* equal contributions)

The figures in the remaining chapters are my own work. When using or adapting them, please cite this thesis as follows:

Cuomo, A.S.E. (2020). Using single-cell RNA-seq to assess the effect of common genetic variants on gene expression during development

How to access my thesis

A PDF of my thesis can be found on the EBI website: link, or on Apollo, the University of Cambridge repository: link.

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