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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...
Large-scale chromosome structure and spatial nuclear arrangement have been linked to control of gene expression and DNA replication and repair. Genomic techniques based on chromosome conformation capture assess contacts for millions of loci simultaneously, but do so by averaging chromosome conformat...
ORGANISM(S): Mus musculus 
Transcriptional profiling of parental S. cerevisiae San I cells in comparison with its translocant derivative D10 Small strain. The latter strain was obtained using Bridge Induced translocation technique between DUR3 gene (Chromosome VIII) and ADH1 gene (Chromosome XV), and exhibited an abnormal phe...
ORGANISM(S): Saccharomyces cerevisiae 
We report the ability of the Drosha null/conditional-null mouse model to enable the identification of pri-miRNA transcripts. The conditional-null allele of Drosha phenocopies the null allele both in mESC and in mice, upon conversion to the null state with Cre. Examination of the effects of Drosha de...
ORGANISM(S): Mus musculus 
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes. While large EAC exome sequencing efforts to date have found recurrent loss-of-function mutations, oncogenic drivin...
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