Chordoma Exome Sequencing

Study ID Alternative Stable ID Type
EGAS00001000188 Cancer Genomics

Study Description

Agilent whole exome hybridisation capture will be performed on genomic DNA derived from Chordoma cancers and matched normal DNA from the same patients. Three lanes of Illumina GA 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 2 datasets.

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Dataset ID Description Technology Samples
Chordoma Exome Sequencing
Illumina Genome Analyzer II,Illumina HiSeq 2000 50
Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in ... (Show More)
Illumina Genome Analyzer II,Illumina HiSeq 2000 18

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