Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

9a7be2e6-9ce0-4f2d-bc8c-c9c2e653c97c - samples

ABSTRACT: RNA-Seq, WES and WGS data of 5 rare tumor/control pairs which were submitted to other HIPO projects, not MASTER. The sequencing was always paired.

PROVIDER: EGAD00001008905 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

Project description:Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported. We first report the 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies. 11p11.12p12 duplication syndrome was identified by karyotype analysis. Next-generation sequencing (NGS) analysis clarified the location of the chromosomal variations, which was confirmed by chromosome microarray analysis (CMA). Whole-exome sequencing (WES) was performed to exclude single nucleotide variations (SNVs). The raw data of NGS analysis and WES have been submitted to SRA, the accession number is PRJNA713823.

2021-03-24 | GSE169469 | GEO

README-for-EGAS00001004276-reused-WGS-WES-files-via-link - samples

Project description:This dataset contains 538 Tumor and Control WGS and WES files for samples already submitted and published in study EGAS00001004276

| EGAD00001007817 | EGA

DataSet_LCPlus_WGS - samples

Project description:WES/WGS sequencing data of 56 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009275 | EGA

DataSet_negative_WGS - samples

Project description:WES/WGS sequencing data of 239 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009279 | EGA

DataSet_HCPlus_WES - samples

Project description:WES/WGS sequencing data of 234 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009272 | EGA

DataSet_HCPlus_WGS - samples

Project description:WES/WGS sequencing data of 337 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009274 | EGA

DataSet_negative_WES - samples

Project description:WES/WGS sequencing data of 242 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009278 | EGA

DataSet_MCPlus_WES - samples

Project description:WES/WGS sequencing data of 75 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009276 | EGA

DataSet_LCPlus_WES - samples

Project description:WES/WGS sequencing data of 86 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009273 | EGA

DataSet_MCPlus_WGS - samples

Project description:WES/WGS sequencing data of 44 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

| EGAD00001009277 | 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