The ICGC / TCGA Pan-Cancer Analysis of Whole Genomes Consortium, a large-scale international collaborative research group including RIKEN and the University of Tokyo, has conducted the most comprehensive and detailed analysis of cancer genomic information to date. Reported the results. Whole-genome sequence analysis of more than 38 cases of 2800 types of cancer revealed more than 4600 million mutations / abnormalities and their characteristics.
This study was conducted as part of the "Cross-Global Cancer Type Analysis Project (PCAWG)", which was launched in 2014 through international collaboration.The project involved more than 37 scientists, IT engineers and clinicians from 1300 countries to work on unprecedented large-scale whole-genome sequencing analysis of cancer.
In cancer whole genome sequence analysis, it is known that the results differ even from the same data depending on the analysis algorithm (pipeline).Therefore, PCAWG has constructed a highly accurate and standardized mutation identification algorithm that combines three basic pipelines.Using this, we analyzed the whole genome sequence data of 38 cases of 2834 types of cancer collected by ICGC (International Cancer Genome Consortium) and TCGA (The Cancer Genome Atlas Project).
Since the total sequence data is about 1 petabyte (1000 trillion bytes), data is shared in the cloud with 10 supercomputers around the world, including the supercomputer "SHIROKANE" of the University of Tokyo Medical Science Research Institute, and huge virtual data. Work was done on the center.As a result, a total of more than 4600 million mutations / abnormalities such as mutations in non-coding regions, genomic structural abnormalities, and mitochondrial genomic abnormalities were identified.Furthermore, by analyzing the identified mutation information in 16 working groups and clarifying their various characteristics, we were able to create the most comprehensive and detailed cancer genome map to date.
It is said that the whole genome data and the developed analysis method in PCAWG are open to the public all over the world, and it is highly expected that it will become a data base for next-generation cancer genomic medicine and research.
