Karczewski Konrad J, Tirrell Robert P, Cordero Pablo, Tatonetti Nicholas P, Dudley Joel T, Salari Keyan, Snyder Michael, Altman Russ B, Kim Stuart K
Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Pac Symp Biocomput. 2012:339-350.
The decreasing cost of genotyping and genome sequencing has ushered in an era of genomic personalized medicine. More than 100,000 individuals have been genotyped by direct-to-consumer genetic testing services, which offer a glimpse into the interpretation and exploration of a personal genome. However, these interpretations, which require extensive manual curation, are subject to the preferences of the company and are not customizable by the individual. Academic institutions teaching personalized medicine, as well as genetic hobbyists, may prefer to customize their analysis and have full control over the content and method of interpretation. We present the Interpretome, a system for private genome interpretation, which contains all genotype information in client-side interpretation scripts, supported by server-side databases. We provide state-of-the-art analyses for teaching clinical implications of personal genomics, including disease risk assessment and pharmacogenomics. Additionally, we have implemented client-side algorithms for ancestry inference, demonstrating the power of these methods without excessive computation. Finally, the modular nature of the system allows for plugin capabilities for custom analyses. This system will allow for personal genome exploration without compromising privacy, facilitating hands-on courses in genomics and personalized medicine.
基因分型和基因组测序成本的不断降低，迎来了基因组个性化医疗的时代。超过10万人通过直接面向消费者的基因检测服务进行了基因分型，这些服务让人们得以一窥个人基因组的解读和探索。然而，这些解读需要大量人工整理，受公司偏好影响，个人无法定制。讲授个性化医疗的学术机构以及基因爱好者可能更倾向于定制他们的分析，并完全掌控解读的内容和方法。我们展示了Interpretome，这是一个用于个人基因组解读的系统，它在服务器端数据库的支持下，将所有基因型信息包含在客户端解读脚本中。我们提供了用于讲授个人基因组学临床意义的前沿分析，包括疾病风险评估和药物基因组学。此外，我们还在客户端实现了用于血统推断的算法，展示了这些方法的强大功能，且无需进行过多计算。最后，该系统的模块化特性允许进行定制分析的插件功能。这个系统将允许在不损害隐私的情况下进行个人基因组探索，为基因组学和个性化医疗的实践课程提供便利。
