Refereed conference paper presented and published in conference proceedings
香港中文大学研究人员 ( 现职)
| 孙昊教授 (化学病理学系) |
| 王华婷教授 (李嘉诚健康科学研究所) |
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引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/0WOS source URL
其它资讯
摘要Sanger sequencing based genetic testing has been well established for many genetic diseases. In these testings, DNA sequencers produce vast amounts of data that need to be interpreted by the clinicians within a short peiod of time. To achieve this goal, a bioinformatics platform that can automates this process is yet to be developed. To fulfill this gap, we developed Online Diagnosis System (ODS), which is implemented as a web server and supports the commonly used ABI trace file format generated from Sanger sequencing. ODS seamlessly integrates useful functions covering base calling, Small Nucleotide Variant (SNV) identification, and comprehensive SNV annotation. It also allows the clinicians to manually inspect the quality of the identified SNVs when generating the final report. ODS can therefore significantly reduce the data analysis time, allowing the completion of the genetic testing in a timely manner.
着者Sun K, Yuen YP, Wang HT, Sun H
会议名称International Conference on Big Data and Smart Computing (BIGCOMP)
会议开始日15.http://aims.cuhk.edu.hk/converis/portal/Publication/01.2http://aims.cuhk.edu.hk/converis/portal/Publication/014
会议完结日17.http://aims.cuhk.edu.hk/converis/portal/Publication/01.2http://aims.cuhk.edu.hk/converis/portal/Publication/014
会议地点Bangkok
会议国家泰国
详细描述organized by Korean Institute of Information Scientists and Engineers,
出版年份2http://aims.cuhk.edu.hk/converis/portal/Publication/014
月份1
日期1
出版社IEEE
页次47 - 51
电子国际标準书号978-1-4799-3919-http://aims.cuhk.edu.hk/converis/portal/Publication/0
国际标準期刊号2375-933X
语言英式英语
关键词genetic testing; Online Diagnosis System; Sanger sequencing; small nucleotide variation
Web of Science 学科类别Computer Science; Computer Science, Information Systems; Computer Science, Theory & Methods
