Francisco Manuel Ortuño

The paper presents a benchmarking challenge to predict Alzheimer's disease neuropathology from single-nucleus transcriptomics using human and AI models, finding that top methods achieve near-perfect categorical staging predictions.

The paper analyzes genetic secondary findings in the Spanish population using the Collaborative Spanish Variant Server database, finding 5% of individuals have reportable variants in 32 ACMG-listed genes.

The paper creates a database of genetic variants specific to Iberian Roma individuals to aid in genetic diagnosis and understand evolutionary adaptations.

The paper develops impuSARS, a method to impute missing SARS-CoV-2 genome sequences, improving the utility of incomplete data for epidemiological surveillance.

The paper describes the pipelines and workflows used to process and harmonize genomic data in the NCI Genomic Data Commons, including data types like somatic mutations and gene expression.