Framework for quality assessment of whole genome, cancer sequences (original) (raw)

New Results

, Ivo Buchhalter, Esther Rheinbay, Keiran M. Raine, Kortine Kleinheinz, Miranda D. Stobbe, Johannes Werner, Sergi Beltran, Marta Gut, Daniel Huebschmann, Barbara Hutter, Dimitri Livitz, Marc Perry, Mara Rosenberg, Gordon Saksena, Jean-Rémi Trotta, Roland Eils, Jan Korbel, Daniela S. Gerhard, Peter Campbell, Gad Getz, Matthias Schlesner, Ivo G. Gut

doi: https://doi.org/10.1101/140921

Abstract

Working with cancer whole genomes sequenced over a period of many years in different sequencing centres requires a validated framework to compare the quality of these sequences. The Pan-Cancer Analysis of Whole Genomes (PCAWG) of the International Cancer Genome Consortium (ICGC), a project a cohort of over 2800 donors provided us with the challenge of assessing the quality of the genome sequences. A non-redundant set of five quality control (QC) measurements were assembled and used to establish a star rating system. These QC measures reflect known differences in sequencing protocol and provide a guide to downstream analyses of these whole genome sequences. The resulting QC measures also allowed for exclusion samples of poor quality, providing researchers within PCAWG, and when the data is released for other researchers, a good idea of the sequencing quality. For a researcher wishing to apply the QC measures for their data we provide a Docker Container of the software used to calculate them. We believe that this is an effective framework of quality measures for whole genome, cancer sequences, which will be a useful addition to analytical pipelines, as it has to the PCAWG project.