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The activation of Long Interspersed Nuclear Element 1 (LINE1/L1) retrotransposons not only leads to genome instability, a factor associated with the development of human diseases, but also plays crucial biological roles in fostering genetic diversity and neuronal functions. Therefore, investigating ...
ORGANISM(S): Homo sapiens (Human) 
2025-06-07 | PXD051452 | Pride
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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