Giorgio Sirugo

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This paper develops an open-source LLM-based pipeline to identify patients with rare genetic aortopathies using clinical notes, achieving high accuracy in recommending genetic testing.

This study evaluates the reliability of coronary artery disease polygenic risk scores across diverse populations, finding poor individual agreement despite equivalent population-level performance.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

The paper investigates the association between host sickle cell haemoglobin and parasite genetic variation in malaria severity, finding that parasite alleles linked to HbS show strong linkage disequilibrium and frequency covariation with HbS.

This study identifies genetic risk factors for late-onset neonatal sepsis, finding sex-specific associations and significant SNP-sex interactions.

This study identifies five genome-wide associations with severe malaria risk in 17,000 individuals from Africa, Asia, and Oceania, including a new variant linked to cerebral malaria.