Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Ena-DATASET-UCAM-GEL-15-04-2015-15:15:23:555-345 - samples

ABSTRACT: Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders.

PROVIDER: EGAD00001001333 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Publications

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Westbury Sarah K SK Turro Ernest E Greene Daniel D Lentaigne Claire C Kelly Anne M AM Bariana Tadbir K TK Simeoni Ilenia I Pillois Xavier X Attwood Antony A Austin Steve S Jansen Sjoert Bg SB Bakchoul Tamam T Crisp-Hihn Abi A Erber Wendy N WN Favier Rémi R Foad Nicola N Gattens Michael M Jolley Jennifer D JD Liesner Ri R Meacham Stuart S Millar Carolyn M CM Nurden Alan T AT Peerlinck Kathelijne K Perry David J DJ Poudel Pawan P Schulman Sol S Schulze Harald H Stephens Jonathan C JC Furie Bruce B Robinson Peter N PN van Geet Chris C Rendon Augusto A Gomez Keith K Laffan Michael A MA Lambert Michele P MP Nurden Paquita P Ouwehand Willem H WH Richardson Sylvia S Mumford Andrew D AD Freson Kathleen K

Genome medicine 20150409 1

<h4>Background</h4>Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases.<h4>Methods</h4>We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluste ...[more]

PMID: 25949529

Similar Datasets

ena-DATASET-UCAM-GEL-29-04-2016-09:10:45:536-165 - samples

Project description:Whole genome sequencing CRAM files for four samples from the BRIDGE Consortium (SPEED project) with pathogenic variants in a gene associated with a movement disorder.

| EGAD00001002070 | EGA

ena-DATASET-UCAM-GEL-14-12-2018-11:29:30:946-46 - samples

Project description:Short read whole genome sequencing (WGS) CRAM files for the NIHR BioResource Rare Diseases WGS project Ã¢Â€Â“ Participants from the Bleeding, Thrombotic and Platelet Disorders (BPD) Rare Disease domain

| EGAD00001004519 | EGA

scRNA-seq of PBMCs from stable ITP patients before TPO-RA discontinuation. STOPAGO study.

Project description:The STOPAGO study enrolled adults with persistent or chronic primary immune thrombocytopenia (ITP) and complete response to thrombopoietin receptor agonist (TPO-RA). TPO-RA discontinuation was planned in the study and patients with sustained complete response off-treatment (SCROT, platelet count > 100 G/L and no bleeding) and non sustained response (NSR, platelet count < 30 G/L or bleeding) were identified at week 24. RNAseq of peripheral blood mononuclear cells was performed at baseline, before TPO-RA discontinuation. Samples originated from 8 patients (4 with SCROT and 4 with NSR). The objectif was to identify putative markers that would predict relapses after TPO-RA discontinuation by comparing SCROT and NSR patients.

2023-10-01 | E-MTAB-12397 | biostudies-arrayexpress

ena-DATASET-UCAM-GEL-07-02-2020-16:52:33:893-76 - samples

Project description:Gray Platelet Syndrome (GPS) is a rare recessive bleeding disorder resulting from biallelic variants in NBEAL2. As part of a comprehensive evaluation of the phenotype and genotype in 47 patients with GPS, four different blood cell-types (platelets, neutrophils, monocytes, and CD4-lymphocytes) were evaluated using bulk RNA-seq in five patients and five controls. These data are deposited in this archive in FASTQ format.

| EGAD00001005950 | EGA

Acidilobus saccharovorans 345-15

Project description:Acidilobus saccharovorans genome sequencing

| PRJNA39927 | ENA

Gene expression profile in platelets of mouse regulated by Smad4 gene

Project description:Mutations of SMAD family member 4 (Smad4) gene caused Hereditary Hemorrhagic Telangiectasia (HHT). It was believed that bleeding disorders were caused by arteriovenous malformation in this syndrome. Although several studies indicated dysfunction of platelets from HHT patient, the role(s) of smad4 in platelet function has not been examined. In this study, using megakaryocyte/platelet-specific Smad4-deficient mice, we investigated the physiological function of Smad4 in platelet activation and the underlying mechanism. Microarray data demonstrated that the level of mRNA for multiple genes changed in Smad4 deficient platelet.

2013-01-29 | GSE43814 | GEO

Sequencing of heritable Bleeding and Platelet Disorders

Project description:The BRIDGE-BPD study aims to discover new causal genes for Bleeding and Platelet Disorders (BPD) by high throughput sequencing using cluster analyses based on improved and standardized deep phenotyping of cases. BPD is one of the 13 Rare Disease projects under the NIHR BioResource Rare Diseases BRIDGE consortium, which is a collaboration aiming to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants.

| EGAS00001001172 | EGA

Stunted Procoagulant Remodelling in Montreal Platelet Syndrome Kindred with p.V1316M mutation

Project description:The Montreal Platelet Syndrome Kindred (MPS) with p.V1316M mutation (2B-VWDMPS) has been associated with chronic macrothrombocytopenia, spontaneous platelet clumping, and mucocutaneous and other bleeding which can be largely prevented by von Willebrand factor concentrate infusion. However, supplemental platelet transfusion has been required on occasions, particularly for severe gastro-intestinal bleeds. This raises the question of whether a previously uncharacterized platelet dysfunction contributes to bleeding diathesis in 2B-VWDMPS patients. We studied the 2 members of the MPS kindred with the most severe bleeding phenotype and addressed this question by coupling quantitative platelet shotgun proteomics and validating biochemical assays, with the systematic analysis of platelet procoagulant membrane dynamics (PMD). Previously, we showed that membrane ballooning, a major procoagulant response of the human platelet after exposure to collagen, is driven by the influx of Na+ and Cl-, followed by the entry of osmotically obliged water. Here, we report in 2B-VWDMPS platelets, loss of the transmembrane chloride channel CLIC1, and reduced chloride ion influx after collagen stimulation. This was associated with diminished membrane ballooning and a distinct phenotypic composition of platelets over fibrillar collagen. Also, 2B-VWDMPS platelets showed marked loss of regulatory, cytoskeletal, and contractile proteins that may account for structure disorganization, giant platelet formation and further reduce the haemostatic response.

2023-08-22 | PXD035713 | Pride

Gene expression profile in platelets of mouse regulated by Smad4 gene

2013-01-29 | E-GEOD-43814 | biostudies-arrayexpress

Genome Sequence of Human Papillomavirus 23 Strain HPV-23/Lancaster/2015.

Project description:The genome of human papillomavirus type 23 (HPV-23; family Papillomaviridae, genus Betapapillomavirus, species Betapapillomavirus 2, type 23) was assembled by deep sequencing from nasopharyngeal swabs. The assembled genome is 2.7% divergent over its full length from the single complete genome of HPV-23 in GenBank (accession no. U31781). We named the strain HPV-23/Lancaster/2015.

| S-EPMC5477316 | biostudies-literature

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