Anna Cuomo

Anna Cuomo

Postdoc at Garvan Institute (Powell & MacArthur), previously RA at Wellcome Sanger Institute (Soranzo), PhD at EMBL-EBI and Cambridge University (Stegle, Marioni)

Publications

Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases

Published in Nature Genetics, 2024

In this review, we provide a perspective of the powerful combination of stem cell systems, single cell technologies, and population studies to better understand the biology of traits and diseases.

Recommended citation: Farbehi N, Neavin DR, Cuomo ASE, Studer L, MacArthur DG and Powell JE (2024). "Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases." Nature Genetics. https://www.nature.com/articles/s41588-024-01731-9

CellRegMap: A statistical framework for mapping context-specific regulatory variants using scRNA-seq

Published in Molecular Systems Biology, 2022

We propose a novel method to map context-specific eQTLs using single-cell data, without the need for individual cells to be grouped a priori into discrete cell types

Recommended citation: Cuomo ASE*, Heinen T* et al. (2022). "CellRegMap: A statistical framework for mapping context-specific regulatory variants using scRNA-seq." Molecular Systems Biology. 18:e10663 https://www.embopress.org/doi/full/10.15252/msb.202110663

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

Published in Genome Biology, 2021

We evaluate the role of different normalisation and aggregation strategies, covariate adjustments techniques, and multiple testing correction methods to optimise adaptation of standard (bulk) eQTL methods to single-cell data

Recommended citation: Cuomo ASE*, Alvari G*, Azodi CB* et al. (2021). "Optimizing expression quantitative trait locus mapping workflows for single-cell studies." Genome Biology. 22, 188 https://genomebiology.biomedcentral.com/articles/10.1186/s13059-021-02407-x