Exome Sequencing of Chordoma Cases

Chordoma is a rare tumor that is believed to develop from notochord remnants. We previously identified germline duplication of the TBXT gene as a major susceptibility mechanism in several chordoma families. Currently, we are using whole exome sequencing to identify additional susceptibility genes in chordoma families without TBXT duplication as well as in sporadic cases.

• Type: Case Set
• Archiver: The database of Genotypes and Phenotypes (dbGaP)