Study

Chondrosarcoma Exome

Study ID Alternative Stable ID Type
EGAS00001000038 Cancer Genomics

Study Description

Agilent whole exome hybridisation capture will be performed on genomic DNA derived from Chondrosarcoma cancer and matched normal DNA from the same patients. Next Generation sequencing will be performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes

Study Datasets 4 datasets.

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Dataset ID Description Technology Samples
EGAD00001000125
Chondrosarcoma Exome
Illumina HiSeq 2000 104
EGAD00001000358
Chondrosarcoma (CHS) is a heterogeneous collection of malignant bone tumours and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1/2 in nearly half of central CHS. However, there has been little systematic genomic analysis of this tumour type and thus the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 cases of CHS. We identified hypermutability of the major ... (Show More)
Illumina HiSeq 2000 17
EGAD00001000637
Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events.
Illumina Genome Analyzer II,Illumina HiSeq 2000 4
EGAD00010000452
Chondrosarcoma case sample genotype using Affymetrix SNP6.0
Affymetrix_SNP6 36

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