13. Bioinformatics and interpretation for clinical reporting of an integrated whole genome and transcriptome assay
2020; Elsevier BV; Volume: 244; Linguagem: Inglês
10.1016/j.cancergen.2020.04.017
ISSN2210-7770
AutoresAlexander Fortuna, Prisni Rath, Alberto J. León, Xuemei Luo, Yogi Sundaravadanam, Peter Ruzanov, Heather Armstrong, Dillan Cooke, Iain Bancarz, Andre Masella, Alexis Varsava, Kayla Marsh, Santiago Vélez, Madhuran Thiagarajah, Lawrence E. Heisler, Bernard Lam, Carolyn Ptak, Paul M. Krzyzanowski, Morgan Taschuck, Dax Torti, Trevor J. Pugh, Michael Laszloffy, Faridah Mbabaali, Tanya Mohanta, Lars Jorgensen,
Tópico(s)Genetic factors in colorectal cancer
ResumoWhole genome and transcriptome sequencing (WGTS) enables comprehensive detection of cancer genome variation from a single cancer specimen, however, clinical reporting of these assays is challenged by the need for significant computational infrastructure and breadth of genomic algorithms needed for analysis. Here, we report on the deployment of a clinical bioinformatics process for comprehensive genomic profiling of a patient's tumour.
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