Author

Natàlia Blay

Institut d'Investigació en Ciències de la Salut Germans Trias i PujolORCID 0000-0002-7160-8529Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 3 Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 5 Assay:GWAS summary statistics· 3 Organism:human· 3 Research Focus:GWAS / association mapping· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Rafael de CidiD· 5 shared Xavier FarréiD· 3 shared Cecilia SalvoroiD· 2 shared David TorrentsiD· 2 shared Iván Galván‐FemeníaiD· 2 shared Lauro SumoyiD· 2 shared Aikaterini LymperidouiD· 1 shared Anna CarrerasiD· 1 shared

Activity by Year

2019-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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5 shared papersGenomics

Rafael de CidORCID

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5 papers

Recent·Most cited

PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores

Xavier Farré, Mireia Gasco, Natàlia Blay, Rafael de Cid

PolyGenie is a Nextflow pipeline that performs PheWAS using polygenic risk scores, producing regression results and visualizations for diverse phenotypes.

NAR Genomics and Bioinformatics · Mar 27, 2026Peer-reviewedGenomics

Genetic Profiling and Early Detection of Type 2 Diabetes Subtypes through Sex-Stratified GWAS and Explainable AI

Lorena Alonso, Miguel Ángel Pérez, Mohammed Yousef Salem Ali, Maedeh Mashhadikhan, Nicolás Gaitán, Leila Satari, Rodrigo Martín, Anthony Piron, Xavier Farré, Natàlia Blay, Lydia Ruiz, Aikaterini Lymperidou, Cecilia Salvoro, Rafael de Cid, Josep Ll. Berral, , David Torrents

This study uses sex-stratified GWAS and explainable AI to identify 184 genes associated with T2D subtypes and improve risk detection.

medRxiv · Jul 24, 2025 · PreprintGenetic & Genomic Medicine

MULTITRAIT ANALYSIS EXPANDS GENETIC RISK FACTORS IN CARDIOEMBOLIC STROKE

Jara Cárcel‐Márquez, Elena Muiño, Cristina Gallego-Fábrega, Natàlia Cullell, Miquel Lledós, Laia Llucià‐Carol, Tomás Sobrino, Francisco Campos, José Castillo, María del Mar Freijo, Juan Francisco Arenillas, Vı́ctor Obach, José Álvarez‐Sabín, Carlos Alberto Molina, Marc Ribó, , Israel Fernández‐Cadenas

This study identifies eight new genetic loci associated with cardioembolic stroke using multitrait analysis of GWAS data, revealing distinct genetic pathways from atrial fibrillation.

Frontiers in Cardiovascular Medicine · Jul 8, 2022Peer-reviewedGenetic & Genomic Medicine

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Jordi Valls-Margarit, Iván Galván‐Femenía, Daniel Matías-Sánchez, Natàlia Blay, Montserrat Puiggròs, Anna Carreras, Cecilia Salvoro, Beatriz Cortés, Ramon Amela, Xavier Farré, Jon Lerga-Jaso, Marta Puig, José Francisco Sánchez-Herrero, Victor Rau Moreno, Manuel Perucho, , David Torrents

The paper generates a comprehensive haplotype map of the Iberian population using high-coverage whole-genome sequencing, focusing on structural variants and their imputation capabilities.

Nucleic Acids Research · Feb 9, 2022Peer-reviewedGenomics

Assessment of kinship detection using RNA-seq data.

Natàlia Blay, Eduard Casas, Iván Galván‐Femenía, Jan Graffelman, Rafael de Cid, Tanya Vavouri

This study evaluates using RNA-seq data to detect kinship by estimating pairwise identity-by-descent, showing it can identify up to second-degree relationships with low to moderate sequencing depth.

Nucleic Acids Research · Aug 29, 2019Peer-reviewedGenomics