Serena Sanna

Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age.

This study tracks vaginal microbiota changes in Italian women across menstrual phases, finding Lactobacillus iners as dominant and highlighting population-specific patterns and hormonal associations.

Exploring sex-specific causal links between thousands of proteins and lipid metabolism using the UK Biobank Pharma proteomics data.

Causal relationships between gut microbiome and hundreds of age-related traits: evidence of a replicable effect on ApoM protein levels

The paper investigates causal relationships between gut microbiome traits and age-related phenotypes, finding significant associations with ApoM protein levels and other plasma proteins.

Multi-ancestry polygenic risk scores for venous thromboembolism

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries

This paper introduces SBayesRC, a method that improves polygenic prediction of complex traits by integrating GWAS summary statistics with functional genomic annotations, showing significant accuracy gains across ancestries.

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project

The paper identifies host genetic loci associated with gut microbiome composition and function in a large cohort, finding significant associations near LCT and ABO genes.

Systematic prioritization of candidate genes in disease loci identifies TRAFD1 as a master regulator of IFNγ signalling in celiac disease

The paper identifies TRAFD1 as a master regulator of IFNγ signalling in celiac disease by systematically prioritizing candidate genes in disease loci using multiple computational methods.

Large-scale association analyses identify host factors influencing human gut microbiome composition

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.

A novel Mendelian randomization method identifies causal relationships between gene expression and low-density lipoprotein cholesterol levels.

This paper introduces MR-link, a Mendelian randomization method that identifies causal relationships between gene expression and LDL-C levels, finding 19 causally linked genes including PVRL2.

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

The paper introduces Decon2, a method to deconvolute bulk blood eQTL effects into immune cell subpopulations, showing high concordance with experimental and single-cell studies.

COVID-19: Viral-host interactome analyzed by network based-approach model to study pathogenesis of SARS-CoV-2 infection.

The paper analyzes the viral-host interactome of SARS-CoV, MERS-CoV, and HCoV-229E using a network-based approach to predict SARS-CoV-2 pathogenesis.

Lack of association between genetic variants at ACE2 and TMPRSS2 genes involved in SARS-CoV-2 infection and human quantitative phenotypes

This study investigates genetic variants in ACE2 and TMPRSS2 genes for associations with quantitative phenotypes and medication use in a population cohort, finding suggestive links with hypertension and inflammation-related drugs.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.