基因组学
计算生物学
仿形(计算机编程)
人类基因组
基因组
外显子组测序
生物
外显子组
可视化
基因组浏览器
数据科学
计算机科学
遗传学
数据挖掘
基因
突变
操作系统
作者
James Robinson,Helga Thorvaldsdóttir,Wendy Winckler,Mitchell Guttman,Eric S. Lander,Gad Getz,Jill P. Mesirov
摘要
Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single nucleotide polymorphism (SNP) and copy number profiling, and functional assays. Analysis of these large, diverse data sets holds the promise of a more comprehensive understanding of the genome and its relation to human disease. Experienced and knowledgeable human review is an essential component of this process, complementing computational approaches. This calls for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data. However, the sheer volume and scope of data pose a significant challenge to the development of such tools.
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