Sequencing of heritable Bleeding and Platelet Disorders - EGA European Genome-Phenome Archive

Study ID	Alternative Stable ID	Type
EGAS00001001172		Other

Study ID

Alternative Stable ID

Type

EGAS00001001172

Other

Study 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.

Dataset ID	Description	Technology	Samples
EGAD00001001333	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. 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.	Illumina HiSeq 2000	28

Dataset ID

Description

Technology

Samples

EGAD00001001333

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.

Illumina HiSeq 2000

Study

Study Description

Study Datasets 1 dataset.

Who archives the data?

Publications

Citations

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.