Marco Cavalli

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Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for transcription factors binding(More)
Plasma levels of high-density lipoprotein cholesterol (HDL-C) have been associated to cardiovascular disease. The high heritability of HDL-C plasma levels has been an incentive for several genome wide association studies (GWASs) which identified, among others, variants in the first intron of the GALNT2 gene strongly associated to HDL-C levels. However, the(More)
AIM Warfarin dose requirement is associated with VKORC1 rs9923231, and we studied whether it is a functional variant. MATERIALS & METHODS We selected variants in linkage disequilibrium with rs9923231 that bind transcription factors in an allele-specific way. Representative haplotypes were cloned or constructed, nuclear protein binding and transcriptional(More)
Genome-wide association studies (GWAS) point to regions with associated genetic variants but rarely to a specific gene and therefore detailed knowledge regarding the genes contributing to complex traits and diseases remains elusive. The functional role of GWAS-SNPs is also affected by linkage disequilibrium with many variants on the same haplotype and(More)
Gene transcription is regulated mainly by transcription factors (TFs). ENCODE and Roadmap Epigenomics provide global binding profiles of TFs, which can be used to identify regulatory regions. To this end we implemented a method to systematically construct cell-type and species-specific maps of regulatory regions and TF-TF interactions. We illustrated the(More)
3.2. Substitute (remove from the market and replace with environmentally safe with alternatives) substances of high risk to birds and incentivise alternatives; introduce mandatory evaluation mechanisms for existing and new products .. 3.2. Restrict access to highly toxic substances through stronger enforcement of supply chain: ways poisons are acquired and(More)
Alluvial fans of alpine torrents are both natural deposition areas for sediment discharged by floods and debris flows, and preferred sites for agriculture and settlements. Hazard assessment on alluvial fans depends on proper identification of flow processes and their potential intensity. This study used LiDAR data to examine the morphology of the al-luvial(More)
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