Study

Genomic and transcriptomic characterization of chordoma

Study ID Alternative Stable ID Type
phs001643 Case Set

Study Description

In this study, we performed paired tumor/normal whole exome and shallow long insert whole genome sequencing, as well as tumor RNAseq, from archival chordoma specimens collected from four patients at the Barrow Neurological Institute in Phoenix, AZ. The purpose of this analysis was to identify potential therapeutic targets. In three patients, we observed that although different DNA and RNA changes were present in each tumor, alterations fell on converging pathways. In the fourth patient, constitutional DNA demonstrated potentially pathogenic alterations that may have predisposed the patient to chordoma.

Archive Link Archive Accession
dbGaP phs001643

Who archives the data?

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