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GenomicsA sequence-based genetic dissection of human immune cell types and implications for immune-related disease.
The immune system is an intricate biological network mediating interactions with other organisms while preserving the integrity of our tissues. By mounting appropriate responses it protects us from a vast range of pathogens while inadvertent immune system attacks on self result in autoimmune disease...
EGAS00001000574 | EGA
UnknownPatterns of care of brain tumor-related epilepsy. A cohort study done in Italian Epilepsy Center.
Not available
S-EPMC5513411 | biostudies-literature
GenomicsGWAS Results from Danjou et al, Nature Genetics 2015
We report genome-wide association study results for the levels of A1, A2 and fetal hemoglobins, analyzed for the first time concurrently. Integrating high-density array genotyping and whole-genome sequencing in a large general population cohort from Sardinia, we detected 23 associations at 10 loci. ...
EGAS00001003645 | EGA
GenomicsNational Institute on Aging (NIA) SardiNIA Study

Sardinia is the second largest island in the Mediterranean and constitutes a genetically isolated founder population. This population has aided in the identification of genes involved in several Mendelian disorders and is attractive for genetic studies due to its organization in long-establishe...

phs000338.v1.p1 | EGA
GenomicsSardiNIA Medical Sequencing Discovery Project

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 investi...

phs000313.v3.p2 | EGA
Genomicsena-DATASET-irgb_cnr-12-01-2017-10:08:18:724-1 - samples
List of SNPs, and their frequencies, extracted from a low pass whole genome sequencing of 3,514 individuals.
EGAD00001003141 | EGA
GenomicsWhole-genome low pass sequencing of 3,514 Sardinian individuals
The dataset includes the VCF files with the list of variants, and their frequency, found in 3,514 Sardinian individuals recruited from the SardiNIA longitudinal study (N=2090) and from a case-control study of autoimmune diseases in Sardinia (N=1424).
EGAS00001002212 | EGA
GenomicsGWAS results from Danjou et al, Nature Genetics 2015
GWAS results in epacts format for Danjou et al, Nature Genetics 2015
EGAD00010001722 | EGA
GenomicsSardiNIA population frequency DAC
Data Access Committee EGAC00001000590
EGAC00001000590 | EGA
Genomicsena-DATASET-irgb_cnr-28-08-2013-10:23:38:586-273 - samples
FACS phenotype of 1629 Sardinian samples
EGAD00001000656 | EGA
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