Francesco Cucca

Adaptive prediction intervals for polygenic risk scores reveal individual variation in genetic predictability

This paper introduces a framework for quantifying uncertainty in polygenic risk scores, showing that prediction intervals vary with genetic and environmental factors.

DNMT3A-R882 mutations intrinsically drive dysfunctional neutropoiesis from human haematopoietic stem cells

This study investigates how DNMT3A-R882 mutations affect HSC differentiation into immune cells, finding they drive dysfunctional neutropoiesis linked to immune dysregulation and inflammatory disease risk.

Quantile-specific confounding: correction for subtle population stratification via quantile regression

The paper demonstrates how quantile regression can correct for subtle population stratification in genome-wide association studies using human height as an example.

Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

Regenie.QRS: computationally efficient whole-genome quantile regression at biobank scale

Regenie.QRS is a computationally efficient whole-genome quantile regression method for biobank-scale GWAS data, showing improved power to detect heterogeneous genetic effects.

Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure

The paper investigates how mutation timing, fitness, and clonal structure influence the clinical progression of clonal hematopoiesis using longitudinal cohort data.

Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

This study finds that blood mitochondrial DNA copy number is consistently associated with personality traits and mediates the link between personality and mortality in two genetic cohorts.

Enhanced genetic analysis of type 1 diabetes by selecting variants on both effect size and significance, and by integration with autoimmune thyroid disease

The paper identifies 302 new genetic signals for type 1 diabetes and autoimmune thyroid disease by combining effect size and significance, showing that only 28% of genome-wide significant signals have large effects.

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.

Analysis of overlapping genetic association in type 1 and type 2 diabetes

This paper identifies four genetic regions associated with both type 1 and type 2 diabetes, with three showing opposite effect directions and one showing concordant effects.

Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations

This study evaluates cost-effective GWAS strategies combining sequencing and array genotyping to improve power and genomic coverage in diverse populations.

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

The paper re-examines polygenic adaptation at height-associated loci in Sardinians and mainland Europeans using UKB and BBJ data, finding evidence of adaptation in Sardinians and a subtle signal in mainland Europeans.

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

The paper analyzes the genetic structure of modern-day Italians to reveal ancient and archaic ancestries shaping Southern European populations and Neanderthal DNA distribution.

Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test

Meta-MultiSKAT improves power for region-based genetic association tests by meta-analyzing multiple correlated phenotypes using summary statistics and variance component tests.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

This study uses ancient DNA to trace Sardinia's population history from the Neolithic to the present, finding genetic continuity and limited Bronze Age Steppe ancestry.

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

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.

Population history of the Sardinian people inferred from whole-genome sequencing

This study uses whole-genome sequencing of 3,514 Sardinians to explore population history, finding genetic isolation in the Gennargentu region and sex-biased demographic patterns.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Discovering patterns of pleiotropy in genome-wide association studies

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.