ID
46142
Descrizione
Principal Investigator: Levi Garraway, Dana Farber Cancer Institute, Boston, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000694 Translating whole exome sequencing (WES) for prospective clinical use may impact the care of cancer patients; however, multiple innovations are necessary for clinical implementation. These include: (1) rapid and robust WES from formalin-fixed paraffin embedded (FFPE) tumor tissue, (2) analytical output similar to data from frozen samples, and (3) clinical interpretation of WES data for prospective use. In this study, we describe a prospective clinical WES platform for archival FFPE tumor samples. The platform employs computational methods for effective clinical analysis and interpretation of WES data. When applied retrospectively to 511 exomes, the interpretative framework revealed a "long tail" of somatic alterations in clinically important genes. Prospective application of this approach identified clinically relevant alterations in 15/16 patients. Overall, this methodology may inform the widespread implementation of precision cancer medicine.
collegamento
Keywords
versioni (2)
- 14/12/22 14/12/22 - Simon Heim
- 29/01/25 29/01/25 - Akane Nishihara
Titolare del copyright
Levi Garraway, Dana Farber Cancer Institute, Boston, MA, USA
Caricato su
29 gennaio 2025
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs000694 Clinical Cancer Sequencing
Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- StudyEvent: dbGaP phs000694 Clinical Cancer Sequencing
- Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Subject ID, sample ID, and sample use of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Subject ID and primary disease of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Sample ID, sample type, and analyte type of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
Similar models
Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- StudyEvent: dbGaP phs000694 Clinical Cancer Sequencing
- Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Subject ID, sample ID, and sample use of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Subject ID and primary disease of participants with tumors and involved in the "Clinical Cancer Sequencing" project.
- Sample ID, sample type, and analyte type of participants with tumors and involved in the "Clinical Cancer Sequencing" project.