Sequencing of heritable Bleeding and Platelet Disorders

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
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

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