作者: Katayoon Kasaian , Yvonne Y. Li , Steven J.M. Jones
DOI: 10.1016/B978-0-12-396967-5.00009-8
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摘要: Advances in high-throughput sequencing technologies have enabled cost-effective of a single human genome at an unprecedented rate, facilitating scientific endeavours never imagined possible before. These improvements transformed the field cancer genomics, allowing complete molecular characterization individual genomes. However, promise unveiling complexity has lent itself to yet another level complexity, task managing and integrating massive amount data that is generated as part such experiments. There need manage store large sequence datasets they can be accessed shared readily but, more importantly, there for their thorough efficient analysis. Developments computer hardware processing power eliminated storage access issues. Additionally, bioinformatic algorithms software, designed specifically analysis genomic data, are now able comprehensively profile mutations sample, provide probability score role disease drivers identify potential actionable targets. Although functional validation putative driver will remain necessity, continued tools increasingly reliable computational