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The Psoriasis Stratification to Optimise Relevant Therapy (PSORT) consortium, prospectively recruited deeply-phenotyped discovery and refinement psoriasis patient cohorts, during the early phase of treatment with two distinct biologics, adalimumab (TNF inhibitor) and ustekinumab (IL-12/23 inhibitor)...
ORGANISM(S): Homo sapiens 

Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = ...

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.
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 BRID...
Data Access Committee EGAC00001000259
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