Dr Sonia Garcia Ruiz
Sonia completed her PhD at University College London in 2023, focusing on splicing accuracy across human tissues, with a particular emphasis on the human brain.
This led to multiple first-author publications (García-Ruiz S et al. NatComms 2025; García-Ruiz S et al. NAR 2023; García-Ruiz S et al. GigaByte 2023; García-Ruiz S et al. FrontGen 2021).
Currently, she works as a Postdoctoral Research Fellow at the UK Dementia Research Institute, Cambridge, where she focuses on integrating short-read, single-cell, single-nucleus, and long-read RNA sequencing data to explore transcriptional changes across cell types using post-mortem brain samples affected with Alzheimer’s disease.
Select publications
- S. García-Ruiz, D. Zhang, E. K. Gustavsson, G. Rocamora-Perez, M. Grant-Peters, A. Fairbrother-Browne, R. H. Reynolds, …, M. Ryten (2025) Splicing accuracy varies across human introns, tissues, age and disease. Nat Commun 16, 1068 (2025). https://doi.org/10.1038/s41467-024-55607-x.
- S. García-Ruiz, E. K. Gustavsson, D. Zhang, R. H. Reynolds, Z. Chen, A. Fairbrother-Browne, A.L. Gil-Martínez, J.A. Botia, L. Collado-Torres and M. Ryten (2023) IntroVerse: a comprehensive database of introns across human tissues, Nucleic Acids Research, Jan2023, https://doi.org/10.1093/nar/gkac1056.
- S. García-Ruiz, R.H. Reynolds, M. Grant-Peters, E.K. Gustavsson, A. Fairbrother-Browne, Z. Chen, J.W. Brenton, M. Ryten (2023) aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3. GigaByte.2023; https://doi.org/10.46471/gigabyte.87.
- S. García-Ruiz, A.L. Gil-Martínez, A. Cisterna, F. Jurado-Ruiz, R.H. Reynolds, NABEC (North America Brain Expression Consortium), M.R. Cookson, J. Hardy, M. Ryten, J.A. Botía (2021) CoExp: A Web Tool for the Exploitation of Co-expression Networks. Front.Genet.12:630187. https://doi.org/10.3389/fgene.2021.630187.
- Gustavsson E K, Zhang D, Reynolds R H, García-Ruiz, S, Ryten M. (2022) ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2. Bioinformatics, Volume 38, Issue 15, August 2022, Pages 3844–3846, https://doi.org/10.1093/bioinformatics/btac409
- Gustavsson, EK, Sethi, S, Gao, Y, Brenton, JW, García-Ruiz, S, … , Ryten M., (2024) The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.Sci. Adv.10,eadk1296(2024). DOI:10.1126/sciadv.adk1296.
- Fairbrother-Browne, A, García-Ruiz S, Reynolds RH, Ryten M. (2023) ensemblQueryR: fast, flexible and high-throughput querying of Ensembl API endpoints in R. GigaByte. 2023 Sep 11; doi: 10.46471/gigabyte.91.
- Zhang, D, Reynolds, RH, García-Ruiz, S., …, Ryten M. (2021) Detection of pathogenic splicing events from RNA-sequencing data using dasper. bioRxiv 2021.03.29.437534; doi: https://doi.org/10.1101/2021.03.29.437534.
Select awards
- UK Dementia Research Institute Pilot Award (2024)
- European Society of Human Genetics Conference Fellowship (2024)
- AWS Cloud Credit for Research Grant (2021)
- Undergraduate Academic Excellence Award (2013)