Rafael de Cid

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

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

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

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.

The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.

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.

This paper introduces a method combining genetic bootstrapping, multidimensional scaling, and discriminant analysis to classify genetic relationships with high accuracy using identity-by-state data.