Author

Santiago González

European Bioinformatics InstituteORCID 0000-0001-5685-4580Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Organism:C. elegans· 1 Research Focus:cell type annotation· 1 Approach:deep learning· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

Harald S. VöhringeriD· 2 shared Moritz GerstungiD· 2 shared Aaron LeongiD· 1 shared Abel González-PéreziD· 1 shared Alexander W. JungiD· 1 shared Allan R LinnebergiD· 1 shared Anton GartneriD· 1 shared António ZorzanoiD· 1 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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2 shared papersBioinformatics

Harald S. VöhringerORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Copy number footprints of platinum-based anticancer therapies

Santiago González, Núria López-Bigas, Abel González-Pérez

The paper identifies a specific copy number footprint in tumors from patients exposed to platinum-based therapies using whole genome sequencing data.

PLoS Genetics · Feb 13, 2023Peer-reviewedGenomics

Pan-cancer computational histopathology reveals mutations, tumor composition and prognosis

Yu Fu, Alexander W. Jung, Ramón Viñas, Santiago González, Harald S. Vöhringer, Artem Shmatko, Lucy R. Yates, Mercedes Jimenez‐Liñan, Luiza Moore, Moritz Gerstung

This paper uses deep transfer learning on H&E images to correlate histopathological patterns with genomic and survival data across 28 cancer types, revealing associations between histopathology and molecular features.

Nature Cancer · Jul 27, 2020Peer-reviewedBioinformatics

Mutational signatures are jointly shaped by DNA damage and repair

Nadezda V. Volkova, Bettina Meier, Víctor González‐Huici, Simone Bertolini, Santiago González, Harald S. Vöhringer, Federico Abascal, Iñigo Martincorena, Peter J. Campbell, Anton Gartner, Moritz Gerstung

This study shows that mutation spectra in C. elegans are shaped by both DNA damage and repair processes, with repair deficiencies altering mutation rates and spectra in many experimental conditions.

Nature Communications · May 1, 2020Peer-reviewedGenomics

A Comprehensive Reanalysis Of Publicly Available GWAS Datasets Reveals An X Chromosome Rare Regulatory Variant Associated With High Risk For Type 2 Diabetes.

Sílvia Bonàs‐Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada, Niels Grarup, David Sebastián, Elias Rodríguez-Fos, Friman Sánchez, Mercè Planas-Fèlix, Paula Cortés-Sánchez, Santiago González, Pascal N. Timshel, Tune H. Pers, Claire C. Morgan, Ignasi Morán, Goutham Atla, , David Torrents

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

Nature Communications · Jan 16, 2018Peer-reviewedGenetics