Pham Phillip H, Shipman William J, Erikson Galina A, Schork Nicholas J, Torkamani Ali
Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.
Scripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America.
PLoS One. 2015 Feb 23;10(2):e0116815. doi: 10.1371/journal.pone.0116815. eCollection 2015.
Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The SG-ADVISER suite includes a de-identification tool, a variant annotation web-server, and a user interface for inheritance and annotation-based filtration. SG-ADVISER allows users with no bioinformatics expertise to manipulate large volumes of variant data with ease--without the need to download large reference databases, install software, or use a command line interface. SG-ADVISER is freely available at genomics.scripps.edu/ADVISER.
解读人类基因组是一项重大挑战。我们展示了斯克里普斯基因组顾问（SG-ADVISER）套件，其旨在通过对所有变异类型和效应进行全面、深入的注释和功能预测，填补数据生成与基因组解读之间的空白。SG-ADVISER套件包括一个去识别工具、一个变异注释网络服务器以及一个用于基于遗传和注释的过滤的用户界面。SG-ADVISER使没有生物信息学专业知识的用户能够轻松处理大量变异数据，而无需下载大型参考数据库、安装软件或使用命令行界面。可在genomics.scripps.edu/ADVISER上免费获取SG-ADVISER。
