{"title":"利用人工智能和大数据超级计算机革新癌症基因组医学","authors":"S. Miyano","doi":"10.1109/VLSIT.2018.8510699","DOIUrl":null,"url":null,"abstract":"We are running a cancer clinical sequence system based on whole genome/exome, RNA sequence and epigenome as research. When focused on hematology/oncology, it takes currently four days for a patient from signing informed consent (IC) to diagnosis. This process consists of IC, specimen collection, next-generation sequencer analysis, data analysis, interpretation/translation of mutations, determining the diagnosis combined with all pathological/clinical data and returning the result to the patient. Therapies are not only drugs but also hematopoietic stem cell transplantation. A pipeline Genomon for analyzing cancer genomes and RNA sequences by next-generation sequencers plays one of the key roles. It is running on the supercomputer system at Human Genome Center. The bottleneck of interpretation/translation was drastically resolved by employing IBM Watson for Genomics in harmony with our in-house human curation pipeline. We report how our system works as a conglomerate of oncologists, cancer biologists, bioinformatics experts augmented with Watson and Genomon.","PeriodicalId":6561,"journal":{"name":"2018 IEEE Symposium on VLSI Technology","volume":"59 1","pages":"7-11"},"PeriodicalIF":0.0000,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Revolutionizing Cancer Genomic Medicine by AI and Supercomputer with Big Data\",\"authors\":\"S. Miyano\",\"doi\":\"10.1109/VLSIT.2018.8510699\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We are running a cancer clinical sequence system based on whole genome/exome, RNA sequence and epigenome as research. When focused on hematology/oncology, it takes currently four days for a patient from signing informed consent (IC) to diagnosis. This process consists of IC, specimen collection, next-generation sequencer analysis, data analysis, interpretation/translation of mutations, determining the diagnosis combined with all pathological/clinical data and returning the result to the patient. Therapies are not only drugs but also hematopoietic stem cell transplantation. A pipeline Genomon for analyzing cancer genomes and RNA sequences by next-generation sequencers plays one of the key roles. It is running on the supercomputer system at Human Genome Center. The bottleneck of interpretation/translation was drastically resolved by employing IBM Watson for Genomics in harmony with our in-house human curation pipeline. We report how our system works as a conglomerate of oncologists, cancer biologists, bioinformatics experts augmented with Watson and Genomon.\",\"PeriodicalId\":6561,\"journal\":{\"name\":\"2018 IEEE Symposium on VLSI Technology\",\"volume\":\"59 1\",\"pages\":\"7-11\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"2018 IEEE Symposium on VLSI Technology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1109/VLSIT.2018.8510699\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"2018 IEEE Symposium on VLSI Technology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/VLSIT.2018.8510699","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
摘要
我们正在运行一个基于全基因组/外显子组、RNA序列和表观基因组的癌症临床序列系统作为研究。在血液学/肿瘤学方面,目前患者从签署知情同意(IC)到诊断需要4天时间。该过程包括IC,标本收集,下一代测序仪分析,数据分析,突变解释/翻译,结合所有病理/临床数据确定诊断并将结果返回给患者。治疗方法不仅是药物,还包括造血干细胞移植。通过下一代测序仪分析癌症基因组和RNA序列的Genomon流水线发挥了关键作用之一。它在人类基因组中心的超级计算机系统上运行。通过采用IBM Watson for Genomics与我们内部的人工管理管道相协调,口译/翻译的瓶颈得到了彻底解决。我们报告我们的系统是如何工作的,作为一个由肿瘤学家、癌症生物学家、生物信息学专家组成的集团,辅以沃森和Genomon。
Revolutionizing Cancer Genomic Medicine by AI and Supercomputer with Big Data
We are running a cancer clinical sequence system based on whole genome/exome, RNA sequence and epigenome as research. When focused on hematology/oncology, it takes currently four days for a patient from signing informed consent (IC) to diagnosis. This process consists of IC, specimen collection, next-generation sequencer analysis, data analysis, interpretation/translation of mutations, determining the diagnosis combined with all pathological/clinical data and returning the result to the patient. Therapies are not only drugs but also hematopoietic stem cell transplantation. A pipeline Genomon for analyzing cancer genomes and RNA sequences by next-generation sequencers plays one of the key roles. It is running on the supercomputer system at Human Genome Center. The bottleneck of interpretation/translation was drastically resolved by employing IBM Watson for Genomics in harmony with our in-house human curation pipeline. We report how our system works as a conglomerate of oncologists, cancer biologists, bioinformatics experts augmented with Watson and Genomon.