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We have used next generation sequencing to sequence genomes (>43-fold coverage) and transcriptomes of an oestrogen-receptor-alpha-positive metastatic lobular breast cancer at depth. We found 32 somatic non-synonymous coding mutations present in the metastasis, and measured the frequency of these som...
Data Access Committee EGAC00001002686
The expression and function of tight junction genes, in particular claudin-1, was studied in order to further understanding of the biology underlying atopic dermatitis. Gene expression profiling was performed on total RNA from nonlesional epidermal samples from 5 subjects with atopic dermatitis, 4 s...
ORGANISM(S): Homo sapiens 
Analysis of rare germline variants in childhood AML in a large panel of cancer predisposition genes (n=216) compiled from literature review, and including genes involved in familial hematological malignancies (HM) and bone marrow failure (BMF) syndromes. The prevalence of extremely rare variants in ...
This dataset contains one vcf file with variants from whole exome sequencing of 24 paediatric AML samples at diagnosis.
We generated paired-end RNA-Seq data using the Illumina Genome Analyzer II platform for four adult granulosa cell tumours (GCTs) of the ovary (1 primary, 3 recurrent). We screened this data for the presence of GCT specific sequence variants and detected a non-synonymous mutation in the FOXL2 gene th...
Sequencing data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample
RNA-SEQ data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample
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