DAC Accession Contact Person Email Access Information
EGAC00001000000 Data Sharing datasharing@sanger.ac.uk http://www.ebi.ac.uk/ega/dacs/EGAC00001000000

This DAC controls 207 datasets:

Dataset Accession Technology Samplessort descending Description
EGAD00001000081 Illumina HiSeq 2000 1 Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing
EGAD00000000053 Illumina Genome Analyzer II 1 Sequencing data from Breast Cancer samples
EGAD00000000054 Life Tech - Solid 1 NCI-H209 is an immortal cell line derived from a bone marrow metastasis of a patient with small cell lung cancer, taken before chemotherapy. The specimen showed histologically typical small cells with classic neuroendocrine features. NCI-BL209 is an EBV-transformed B-cell line derived from the same patient as the small cell lung cancer cell line, NCI-H209
EGAD00001000091 Illumina Genome Analyzer II 1 Non Tumour Renal Cell Line Sequencing
EGAD00001000301 Illumina HiSeq 2000; 1 A couple of previously characterized and sequenced libraries will be repeated using a couple of differing size selection criteria and skim sequenced using an Illumina HiSeq. The resulting sequence will be analyzed to determine the optimal DNA library size for our specific downstream analysis.
EGAD00001000824 Illumina HiSeq 2000; 1 RNA sequencing will be undertaken to reconstruct rearrangements at level of transcription to determine pathogenomic genomic events in chondromyxoid fibroma.
EGAD00000000055 Illumina Genome Analyzer II 2 COLO-829 is a publicly available immortal cancer cell line and COLO-829BL is a lymphoblastoid cell line derived from the same patient
EGAD00001000149 Illumina HiSeq 2000 2 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome
EGAD00001000359 Illumina HiSeq 2000; 2 In this study we will sequence the transcriptome of Verified Cancer Cell lines. This will be married up to whole exome and whole genome sequencing data to establish a full catalog of the variations and mutations found.
EGAD00001000634 Illumina HiSeq 2000; 2 The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL), is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize the critical secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, accounting for at least 43% of genomic rearrangements and characterized by the presence of recombination signal sequence motifs near the breakpoints; incorporation of non-templated sequence at the junction and a ten-fold enrichment at promoters and enhancers of genes actively transcribed in early B-lineage development. Single-cell tracking shows that this mechanism is not restricted to one founder cell but is rather active throughout leukemic evolution. Integration of point mutation and rearrangement data identifies recurrent inactivation of ATF7IP and MGA as two new tumor suppressor genes.Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1 lymphoblasts, striking promoters and enhancers of the genes that normally control B-cell differentiation.
EGAD00001000847 Illumina HiSeq 2000; 2 Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.
EGAD00001001242 Illumina MiSeq; 2 Pilot study to set up sequencing protocols for targeted pulldown methylation profiling
EGAD00001001123 Illumina HiSeq 2000; 2 Deep sequencing of two skin biopsies to study the landscape of somatic mutations in human adult tissues.
EGAD00001001063 Illumina HiSeq 2000; 2 Chondromxoid fibroma is a benign tumour of bone with unknown underlying pathogenesis. To determine pathognomic genomic event in chondromyxoid fibroma whole genome sequencing will be undertaken to reconstruct rearrangements and find underlying mutations.
EGAD00001001429 HiSeq X Ten; 2 Profiling subclonal architecture and phylogeny in tumors by whole-genome sequence data mining and single-cell genome sequencing

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