Chiara Batini

Hypertrophic cardiomyopathy: a genome wide association meta-analysis and polygenic risk score

This paper identifies novel genetic loci for hypertrophic cardiomyopathy through GWAS and develops a polygenic risk score associated with HCM diagnosis and outcomes.

Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development

This paper identifies genetic variants and genes associated with foveal hypoplasia using GWAS and multi-omics data, and establishes a zebrafish model to study the condition.

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

Genome-Wide Insights into the Genes and Pathways Shaping Human Foveal Development

This study identifies 123 genome-wide significant loci associated with foveal pit depth, revealing new biological pathways and genes involved in human foveal development.

Genome-wide Association Study of Long COVID

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

Genome-wide association study of varenicline-aided smoking cessation

This paper conducts a genome-wide association study to identify genetic variants associated with varenicline-aided smoking cessation using electronic health records.

Genomics of chronic cough unravels neurological pathways

This study identifies seven novel genetic loci associated with chronic dry cough and ACEi-induced cough, implicating neurological genes and highlighting potential therapeutic targets.

Mitogenome sequences of domestic cats demonstrate lineage expansions and dynamic mutation processes in a mitochondrial minisatellite

This study analyzes mitogenomes of domestic cats to reveal lineage expansions and dynamic mutation processes in a mitochondrial minisatellite.

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK

This study identifies genetic variants associated with smoking initiation and cessation in men of African ancestry, highlighting underrepresented populations in genetic research.

Genome-wide association study of ACE inhibitor-induced cough implicates neuropeptides and shows genetic overlap with chronic dry cough

This study identifies genetic associations with ACE inhibitor-induced cough and finds shared genetic factors with chronic dry cough.

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

Expanded genetic landscape of chronic obstructive pulmonary disease reveals heterogeneous cell type and phenotype associations

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.

Signatures of human European Paleolithic expansion shown by resequencing of non-recombining X-chromosome segments

This study uses X-chromosomal haplotype blocks to show evidence of human European Paleolithic expansion, finding pre-Neolithic population expansions consistent with mtDNA data.