Head of Research
Area of interest:
My research focuses on studying the genetics of quantitative traits and complex diseases. Advanced high-throughput genotyping technologies, as well as computational tools, allow fine-scale characterization of genetic variation and have made the search of susceptibly loci successful, in particular via whole-genome association analysis approaches. Genetic studies are nowadays extremely powerful with the advent of next-generation sequencing technologies. By coupling cutting-edge technologies and methods with a special population, the Sardinians, I have identified key molecular mechanisms underlying hundreds of complex traits. I am now interested to further expand my research in two directions: better dissect the complexity of diseases by incorporating non-genetic components from –omics experiments, and identify the sources of variability in symptoms and expressivity of Mendelian diseases. Further understanding of such mechanisms is the route toward the future development of a personalize medicine.
Most significant publications:
Effect of host genetics on the gut microbiome in 7,738 participants of the Đutch Microbiome Project Journal Article
In: Nat Genet, 54 (2), pp. 143–151, 2022.
Challenges and future directions for studying effects of host genetics on the gut microbiome Journal Article
In: Nat Genet, 54 (2), pp. 100–106, 2022, ([DOI:hrefhttps://dx.doi.org/10.1038/s41588-021-00983-z10.1038/s41588-021-00983-z] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3278393532783935]).
Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids Journal Article
In: Nat Commun, 11 (1), pp. 4930, 2020, ([PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530717PMC7530717] [DOI:hrefhttps://dx.doi.org/10.1038/s41467-020-18716-x10.1038/s41467-020-18716-x] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2346866323468663]).
Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases Journal Article
In: Nature Genetics, 51 (4), pp. 600–605, 2019.
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels Journal Article
In: Nature Genetics, 47 (11), pp. 1264–1271, 2015.
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers Journal Article
In: Nature Genetics, 47 (11), pp. 1272–1281, 2015.
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs Journal Article
In: European Journal of Human Genetics, 23 (7), pp. 975–983, 2014.
Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability Journal Article
In: PLoS Genetics, 7 (7), pp. e1002198, 2011.