SardiNIA Medical Sequencing Discovery Project
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA74851 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:<p>The SardiNIA Medical Sequencing Discovery Project studies the genetics of blood lipid levels and personality in a Sardinian population cohort. The project has generated draft genome sequences for approximately 2,000 individuals using whole genome shotgun sequencing. The draft sequences will allow investigators to evaluate the contribution of common and rare 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 the NEO-PI-R questionnaire. The two traits represent different ends of the spectrum of medically interesting complex traits. Blood lipid levels are a 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 phenotypes that have proven more challenging to dissect using standard genetic tools. In both cases, we expect whole genome sequencing to improve our understanding of the underlying biology.</p> <p>The isolated Sardinian population is ideal for this type of study for several reasons, in particular because: (i) the bottleneck that occurred after colonization of the island attenuated natural selection against alleles with phenotypic consequences, increasing the odds that functional alleles will reach modest frequencies (0.5 - 5.0%) and will be detected in the present study and (ii) sharing of long haplotype stretches surrounding rare variants will facilitate imputation based analyses of shotgun sequence data, which improve the accuracy of individual genotype calls and thus increase power. </p> <p>This research helps advance NIH's mission by furthering our understanding of the genetic factors contributing to blood lipid levels and coronary heart disease and to personality, behavior and mental health. In addition, these data should facilitate development of analysis tools and strategies that can be used to study the genomes of hundreds to thousands of individuals and further our understanding of the genetics and biology of many different traits and conditions.</p>
| phs000313 | dbGaP
Project description:Whole Genome Medical Sequencing for Gene Discovery
| PRJNA381265 | ENA
Project description:<p>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 phenotypes that have proven more challenging to dissect using standard genetic tools. In both cases, we expect whole genome sequencing to improve our understanding of the underlying biology.</p> <p>The isolated Sardinian population is ideal for this type of study for several reasons, and in particular because: (i) the bottleneck that occurred after colonization of the island attenuated natural selection against alleles with phenotypic consequences, increasing the odds that functional alleles will reach modest frequencies (0.5 - 5.0%) and will be detected in the present study and (ii) sharing of long haplotype stretches surrounding rare variants will facilitate imputation based analyses of shotgun sequence data, which improve the accuracy of individual genotype calls and thus increase power.</p> <p>This research helps advance NIH's mission by furthering our understanding of the genetic factors contributing to blood lipid levels and coronary heart disease and to personality, behavior and mental health. In addition, these data should facilitate development of analysis tools and strategies that can be used to study the genomes of hundreds to thousands of individuals and further our understanding of the genetics and biology of many different traits and conditions.</p>
| phs000313.v3.p2 | EGA
Project description:Discovery Phase - Alzheimer’s Disease Sequencing Project (ADSP)
| PRJNA205516 | ENA
Project description:Listeria monocytogenes strain:medical patient | isolate:medical patient Genome sequencing
| PRJNA814010 | ENA
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
2016-06-10 | GSE83154 | GEO
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
2016-06-10 | GSE83151 | GEO
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
2016-06-10 | GSE83225 | GEO