Study

SardiNIA Medical Sequencing Discovery Project

Study ID Alternative Stable ID Type
phs000313 Family

Study Description

The SardiNIA Medical Sequencing Discovery Project is a study of the genetics of blood lipid levels and personality in a Sardinian population cohort. The project will generate draft genome sequences for 1,000 individuals using whole genome shotgun sequencing. The draft sequences will allow investigators to evaluate the contribution of common (frequency >5.0%) and rare (frequency 0.5 - 5.0%) single nucleotide polymorphisms, short insertions and deletions, large copy number polymorphisms and other structural variants to blood levels of low density lipoprotein cholesterol (LDL-c), high density lipoprotein cholesterol (HDL-c) and triglycerides (TG), all of which are key risk factors for cardiovascular disease, and to the 5 domains of personality as assessed by NEO-PI-R questionnaire. The two traits represent different ends of the spectrum of medically interesting complex traits. Blood lipid levels are risk factor for cardiovascular disease for which genetic studies have been very successful. In contrast, personality traits and other behavioral phenotypes represent a set of ... (Show More)

Archive Link Archive Accession
dbGaP phs000313

Who archives the data?

There are no publications available