Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Ena-DATASET-GCAT-11-10-2021-10:16:47:575-149 - samples

ABSTRACT: This dataset contains raw genotypes ( SNVs, Indels and SVs), from 785 samples,without applying any filter, from the 808 WGS GCAT cohort.

PROVIDER: EGAD00001008210 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Publications

GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia.

Obón-Santacana Mireia M Vilardell Mireia M Carreras Anna A Duran Xavier X Velasco Juan J Galván-Femenía Iván I Alonso Teresa T Puig Lluís L Sumoy Lauro L Duell Eric J EJ Perucho Manuel M Moreno Victor V de Cid Rafael R

BMJ open 20180327 3

<h4>Purpose</h4>The prevalence of chronic non-communicable diseases (NCDs) is increasing worldwide. NCDs are the leading cause of both morbidity and mortality, and it is estimated that by 2030, they will be responsible for 80% of deaths across the world. The Genomes for Life (GCAT) project is a long-term prospective cohort study that was designed to integrate and assess the role of epidemiological, genomic and epigenomic factors in the development of major chronic diseases in Catalonia, a north- ...[more]

PMID: 29593016

Similar Datasets

GCAT-Panel of the Iberian population

Project description:This dataset includes the .hap, .legend and .sample files from the GCAT|Panel (Iberian reference panel), built from 785 samples, after QC, from the 808 WGS GCAT cohort, including 30.3M SNVs, 5M Indels and 89K SVs. This resource has been generated using Shapeit4 and WhatsHap software. Technology used HiSeq 4000, read length 150 bp, inner mate disatance 300 bp.

| EGAD00010002153 | EGA

gcat_catalogue_dataset - samples

Project description:This dataset contains genotypes (35.4M of SNVs, Indels and SVs), from 785 samples, after QC filtering, from the 808 WGS GCAT cohort.

| EGAD00001007774 | EGA

ena-DATASET-GCAT-07-10-2021-15:43:07:167-35 - samples

Project description:This dataset include FASTQ files of 808 samples from GCAT cohort. Technology used HiSeq 4000, read length 150 bp, inner mate distance 300 bp. For each sample the paired -ends are generated in separated files. Each FASTQ is splitted in multiple LANEs and grouped by the Multiplex index.

| EGAD00001008201 | EGA

ena-DATASET-GCAT-07-10-2021-15:48:18:552-38 - samples

Project description:This dataset include BAM files of 808 samples from GCAT cohort. Technology used HiSeq 4000, read length 150 bp, inner mate distance 300 bp. For each sample the paired -ends are generated in separated files. Each FASTQ is splitted in multiple LANEs and grouped by the Multiplex index.

| EGAD00001008202 | EGA

Project description:785 sequencing

| PRJNA562424 | ENA

Staphylococcus aureus strain:808 | isolate:808

Project description:Staphylococcus aureus strain:808 | isolate:808 Genome sequencing

| PRJNA970329 | ENA

Molecular architecture of individual synaptic vesicles

Project description:Synaptic vesicles (SVs) perform neurotransmitter uptake inside the presynaptic neuron and their delivery to the synaptic cleft. The molecular composition of SVs was investigated, largely by proteomic analysis and fluorescent microscopy, and a model of an average SV was proposed. However, structural heterogeneity and molecular architecture of individual SVs are not yet well described. Here we used cryo-electron tomography (cryo-ET) to visualize morphological and molecular details of SVs isolated from native sources and inside synapses of cultured neurons. Surprisingly, a large fraction of the SV’s membrane did not show visible proteins. We describe several classes of small proteins on SVs' surface and long proteinaceous densities inside SVs. We identified large V-ATPases and determined their structure using subtomogram average (StA), and showed that it forms a complex with another membrane-embedded protein. Interestingly, V-ATPases were randomly distributed among the SVs irrespective of their sizes. We observed clathrin coats on a subpopulation of the SVs and partially assembled clathrin cages on isolated SVs and SVs inside cells. Finally, we describe non-vesicle-containing clathrin baskets, both from extracted SV preparations and within hippocampal neurons. Our analysis contributes to the understanding of the diversity of SVs and their molecular architecture.

2025-03-17 | PXD045356 | Pride

8-chip high-resolution aCGH experiment NA15510 vs. NA18505

Project description:We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify SVs 3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were deduced with a novel pooling strategy and computational analysis. Array-CGH was used for validation. Keywords: array CGH 2 samples were analyzed with 8 different Nimblegen chips (385k); thus ~30M probes were used to interrogate copy number variants in NA15510 (using NA18505 as control) at high resolution.

2007-09-28 | E-GEOD-9002 | biostudies-arrayexpress

GCAT-MB-stability

Project description:Stability of microbiome samples analyzed with 16S

| PRJEB67775 | ENA

8-chip high-resolution aCGH experiment NA15510 vs. NA18505

2007-09-28 | GSE9002 | GEO