Study ID Alternative Stable ID Type
EGAS00001000147 Cancer Genomics

Study Description

We propose to definitively characterise the somatic genetics of Osteosarcoma cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing.

Study Datasets 4 datasets.

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Dataset ID Description Technology Samples
Osteosarcoma Whole Genome
Illumina HiSeq 2000 108
A selection of human cancers harbours somatic driver mutations in genes encoding histones, most notably childhood brain tumours with K27M substitutions of the histone 3.3 gene, H3F3A. We performed whole genome sequencing of the benign cartilage tumour, chondroblastoma, and targeted sequencing of histone 3.3 genes, H3F3A and H3F3B, in seven further skeletal tumour types. We identified an exceptionally high prevalence of novel histone 3.3 driver mutations at glycine 34 and at lysine 36. Histone ... (Show More)
Illumina HiSeq 2000 14
Cancer genomes are frequently characterized by numerical and structural karyotypic abnormalities. Here we combined an inducible centromere-specific inactivation approach with selection for a conditionally essential gene, a strategy we term ‘CEN-SELECT’, and show that single-chromosome missegregation during cell division can directly drive a broad spectrum of structural rearrangement types. Cytogenetic profiling revealed that missegregated chromosomes are 120-fold more susceptible to ... (Show More)
HiSeq X Ten,Illumina HiSeq 2000 22
Chondroblastoma case sample genotype using Affymetrix SNP6.0
Affymetrix_SNP6- 7

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