Carlo Sidore

The paper introduces REMETA, a tool for efficiently performing meta-analysis of gene-based tests using summary statistics, demonstrating its application on UK Biobank data.

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.

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

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.

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

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.

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

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.

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.

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.

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.