Carlos Loucera

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 organizes a DREAM challenge to benchmark predictive models of single-cell signaling using mass cytometry data from breast cancer cell lines.

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 presents a web interface for a mechanistic model of the SARS-CoV-2 disease map to infer gene expression-related activities and study intervention effects.

SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.

This paper uses mechanistic signaling pathway models to analyze single-cell RNA-seq data from glioblastoma, revealing functional heterogeneity and drug resistance mechanisms at the single-cell level.

This study uses machine learning and mechanistic models to predict therapeutic targets related to Fanconi anemia, identifying over 20 potential targets.