Application and use of long-read sequencing in personalized cancer medicine скачать в хорошем качестве

Application and use of long-read sequencing in personalized cancer medicine

Abstract In this study we sought to understand what additional information could be gleaned from long-read sequencing using the Oxford Nanopore Technologies PromethION platform. This analysis was done on a cohort of patients from a larger prospective study from British Columbia, Canada, called the Personalized Oncogenomics (POG) Program, in which patients with advanced cancers provide a sample for whole-genome transcriptome sequencing and analysis. The long-read POG dataset comprises a sub-cohort of 189 patient tumours and 41 matched normal samples who have both the long-read and standard “short” read sequencing. This data set has demonstrated the potential of long-read sequencing for resolving complex cancer-related structural variants, viral integrations, and extrachromosomal circular DNA. From a clinical perspective we have used this data to explain the presence of homologous recombination deficiency (HRD) due to promoter methylation in BRCA1 and RAD51C where no driver mutation could be identified. Biography Dr. Laskin is a Clinical Associate Professor in the Department of Medicine at The University of British Columbia, Canada. She is also an Associate Member in Canada’s Michael Smith Genome Sciences Centre, and a Medical Oncologist at BC Cancer, in Vancouver. Dr. Laskin’s research is focused on genomic and personalized medicine as the clinical program leader for the Personalized Oncogenomics (POG) Program. POG is a collaborative translational research effort that uses in-depth genomic sequencing to guide chemotherapy decision-making in a clinically relevant timeframe.