Santiago Díaz‐Torres

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

Dissecting Pleiotropy Between Major Depressive Disorder and Physical Disease Comorbidities

This study identifies genetic pleiotropy between major depressive disorder and four physical disease clusters, finding strong associations with gastrointestinal diseases and uncovering novel biological pathways.

Evaluating the Clinical Impact of CYP2C19 and CYP2D6 on Amitriptyline Outcomes in a Real-World Chronic Pain Cohort

This study examines the association between CYP2C19 and CYP2D6 metabolizer phenotypes and amitriptyline effectiveness and tolerability in a chronic pain cohort, finding no strong associations after correction for multiple testing.

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Cross-ancestry performance of Parkinson's disease polygenic risk scores in admixed Latin American populations

This study evaluates polygenic risk scores for Parkinson's disease in admixed Latin American populations, finding that European-derived PRS outperform ancestry-matched but underpowered datasets.

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

Estimating the Genetic Contribution to Astigmatism and Myopia in the Mexican population

This study estimates the genetic contribution to astigmatism and myopia in the Mexican population using twin data and finds high heritability and genetic correlations.

Phenotypic and genetic factors associated with differential consent to record linkage for prescription history in the Australian Genetics of Depression Study

The paper examines factors influencing consent to prescription record linkage in a depression genetics study, finding phenotypic and genetic associations with participation rates.