Elisa Benetti

Anonymized Somatic Tumor Twins (STTs) enable open genome data sharing and use in research and clinical oncology

The paper introduces GenomeAnonymizer, a method to anonymize tumor-normal DNA sequences, creating STTs that preserve somatic variants and enable open research while protecting privacy.

A methodological framework for accommodating Cancer Genomics Information in OMOP-CDM using Variation Representation Specification (VRS).

The paper proposes a method to integrate cancer genomics data into the OMOP CDM using KOIOS-VRS, a pipeline that converts VCF files into OMOP-compatible formats.

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.

The paper shows that the L412F polymorphism in TLR3 is associated with severe COVID-19 in males by inhibiting autophagy and reducing TNF production.

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

The paper develops a machine learning model to predict COVID-19 severity using exonic variants from whole exome sequencing data, finding that variants across all frequency categories contribute to severity.

SELP Asp603Asn and severe thrombosis in COVID-19 males: implication for anti P-selectin monoclonal antibodies treatment

The paper identifies a genetic variant in the SELP gene associated with increased thrombosis risk in male COVID-19 patients, suggesting potential for anti-P-selectin antibody therapy.

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.

The paper identifies shorter androgen receptor polyQ alleles as protective against severe COVID-19 in males using machine learning on whole-exome sequencing data from the GEN-COVID cohort.

Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical Data for Advancing COVID-19 Research

The paper describes a biobanking initiative collecting genetic and clinical data from over 1,000 SARS-CoV-2-positive individuals to study multi-organ involvement and genetic factors in COVID-19 severity.

Post-Mendelian genetic model in COVID-19

The paper proposes a post-Mendelian genetic model integrating common and rare variants to predict severe vs. mild COVID-19 outcomes in an Italian cohort.

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males

The paper identifies rare TLR7 variants associated with severe COVID-19 in young males, suggesting a genetic basis for disease susceptibility.

Clinical and molecular characterization of COVID-19 hospitalized patients

The paper reports Whole Exome Sequencing analysis of 35 hospitalized COVID-19 patients, identifying pathogenic mutations linked to virus infection susceptibility and disease progression.

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.