Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

EGAS00001000458-sc-20140129 - samples

ABSTRACT: This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.

PROVIDER: EGAD00001000731 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Whole Genome sequencing of individuals from Val Borbera Italy

Project description:This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.

| EGAS00001000458 | EGA

EGAS00001000398-sc-20140129 - samples

Project description:The VBSEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Up to 100 Val Borbera samples will be sequenced to a 6x depth.

| EGAD00001000730 | EGA

Whole Genome sequencing of individuals from Carlantino Italy

Project description:This study includes whole-genome sequencing data (at 4x depth) of 100 individuals from an Italian genetic isolate population (Carlantino, abbreviated CARL) of the Italian Network of Genetic Isolates (INGI). The INGI-CARL_SEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.

| EGAS00001000460 | EGA

EGAS00001000460-sc-20140312 - samples

| EGAD00001000774 | EGA

High powered complex trait association mapping through whole genome sequencing of a selected subpopulation of the INGI Val Borbera genetic isolate

| EGAS00001000398 | EGA

MiROvaR, a microRNA-based predictor of early relapse for ovarian cancer patients [training set; OC179]

Project description:Despite a pathological complete response, risk-of-relapse remains a challenge for most of epithelial ovarian cancer (EOC) patients and an ad-hoc predictor can be a valuable clinical tool. We developed a 35 miRNAs-based predictor of Risk of Ovarian Cancer Relapse (MiROvaR) using a training set of patients from MITO-2 (Multicentre Italian Trials in Ovarian Cancer-2; Pignata S et al. J Clin Oncol. 2011 Sep 20). MiROvaR performance was confirmed in two independent validation cohorts.

2016-10-31 | GSE73581 | GEO

MiROvaR, a microRNA-based predictor of early relapse for ovarian cancer patients [validation set; OC133]

2016-10-31 | GSE73582 | GEO

EGAS00001000344-sc-20140129 - samples

Project description:The Val Borbera is a region characterized by low iodine and high prevalence of thyroid disorders, the commonest endocrine disorders in the general population. About 30% of the participants of the Val Borbera Project were affected by such disorders and were characterized by several parameters, TSH level, anti TPO antibodies, echography, family origin. Individuals with extreme phenotypes were identified and could be clustered based on family origin and genotype. We propose to exome sequence 6 of them, affected with true goiter, at high dept (40-60x) to obtain information on exonic rare variants. Due to the family structure and to the availability of whole genome sequence information on 110 individuals from the isolated population we expect to be able to identify putative causative variants for thyroid disorders that may be studied in the remaining affected individuals.

| EGAD00001000729 | EGA

ITALIAN EOAD

Project description:GENETIC VARIANTS IN ITALIAN EARLY-ONSET AD

| PRJEB55143 | ENA

EGAS00001000252-sc-20140129 - samples

Project description:Low coverage whole genome sequencing of samples from individuals from Friuli Venezia Giulia, an Italian genetic isolate population.

| EGAD00001000728 | EGA

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data