基因解读系统中遗传检测报告自动生成技术  

AUTO-GENERATION OF GENETIC TEST REPORT IN GENE INTERPRETATION SYSTEM

作　　者：张少伟 蒋艳凰 Zhang Shaowei;Jiang Yanhuang(School of Software Engineering,University of Science and Technology of China,Hefei 230026,Anhui,China;Genetalks Biological Technology(Changsha)Co.,Ltd.,Changsha 410000,Hunan,China)

机构地区：[1]中国科学技术大学软件工程学院,安徽合肥230026 [2]人和未来生物科技(长沙)有限公司,湖南长沙410000

出　　处：《计算机应用与软件》2021年第2期37-42,92,共7页Computer Applications and Software

基　　金：国家自然科学基金项目(U1811462);长沙市科技计划项目(kq1701105)。

摘　　要：人工出具遗传检测报告过程繁琐,工作量大。为了提高遗传检测分析的效率,通过对HTML模板进行编辑与格式转换,实现Linux系统下遗传检测报告的自动生成。基于GTX.Digest基因解读系统的分析结果、医生对致病性的判定结果、生物医学领域的权威数据库,设计基于文献相关性、影响因子可信度的文献排序算法。通过实验验证,该算法的排序结果符合人工排序规则,满足使用需求。该报告自动生成技术提高了GTX.Digest系统的易用性,极大地减轻了医疗工作者的工作量。The process of artificially issuing genetic test reports is complicated.In order to improve the efficiency of genetic testing,this paper provids a report auto-generation method for whole exome sequencing under Linux system through the editing and format conversion of HTML template.A literature sorting algorithm was designed to acquire the most related references for the report.Based on the analysis results of the GTX.Digest gene interpretation system,the doctor s judgment on pathogenicity,and authoritative databases in the field of biomedicine,the system can automatically generate literature sorting result.The experimental results show that the sorting result conforms to the manual sorting rules and meets the usage requirements.The report auto-generation function greatly reduces the workload of medical workers,which improves the usability of GTX.Digest system considerably.

关 键 词：全外显子测序 基因解读 文献排序算法 自动生成技术 

分 类 号：TP391[自动化与计算机技术—计算机应用技术]