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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2 papers

Recent·Most cited

BioinformaticsProceedings - IEEE Symposium on Computer-Based Medical SystemsPeer-reviewedJun 1, 2023

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

Belén Otero-Carrasco, Santiago Romero Brufau, Andrea Álvarez-Pérez…·Alejandro Rodríguez‐González

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

2 citations

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Genetic & Genomic MedicineCommunications BiologyPeer-reviewedAug 22, 2022

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…·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.

114 citationstop 1%

humanGWAS summary statistics

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