Author

Santiago Romero Brufau

Mayo ClinicORCID 0000-0002-9922-0083Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:polygenic risk· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adrián Ayuso-MuñoziD· 1 shared Alanna C. MorrisoniD· 1 shared Alejandro Rodríguez‐GonzáleziD· 1 shared Andrea Álvarez-PéreziD· 1 shared Belén Otero-CarrascoiD· 1 shared Bruce M. PsatyiD· 1 shared Daniel A LevyiD· 1 shared Donald M. Lloyd‐JonesiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Adrián Ayuso-MuñozORCID

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Author profile →

2 papers

Recent·Most cited

Orphan Drugs and Rare Diseases: Unveiling Biological Patterns through Drug Repurposing

Belén Otero-Carrasco, Santiago Romero Brufau, Andrea Álvarez-Pérez, Adrián Ayuso-Muñoz, Lucia Prieto Santamaría, Juan Pedro Caraça-Valente Hemández, Alejandro Rodríguez‐González

This paper examines the evolution of orphan drug development and identifies biological patterns in rare diseases treated with repurposed drugs.

Proceedings - IEEE Symposium on Computer-Based Medical Systems · Jun 1, 2023Peer-reviewedBioinformatics

Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes

Michael Elgart, Genevieve Ray Lyons, Santiago Romero Brufau, Nuzulul Kurniansyah, Jennifer A. Brody, Xiuqing Guo, Henry J. Lin, Laura M. Raffield, Yan Lin Gao, Han Chen, Paul S. de Vries, Donald M. Lloyd‐Jones, Leslie A. Lange, Gina Marie Peloso, Myriam Fornage, , Tamar Sofer

This paper uses gradient boosted trees to improve polygenic risk prediction by capturing non-linear genetic effects and SNP interactions, showing significant increases in variance explained for multiple complex traits.

Communications Biology · Aug 22, 2022Peer-reviewedGenetic & Genomic Medicine