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基因解读系统中遗传检测报告自动生成技术 被引量:1

AUTO-GENERATION OF GENETIC TEST REPORT IN GENE INTERPRETATION SYSTEM
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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.
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)
出处 《计算机应用与软件》 北大核心 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)。
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 Whole exome sequencing Genetic interpretation Literature sorting algorithm Automatic generation technology
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  • 1Kan YW,Golbus MS,Dozy AM.Prenatal diagnosis of alpha-thalassemia.Clinical application of molecular hybridization[J].N Engl J Med,1976,295(21):1165-1167.
  • 2Nussbaum RL,Mclnnes RR,Willard HF.Thompson & Thompson's Genetics 'in Medicine[M].7th.Philadelphia:Saunders,2007:41-58.
  • 3Kosaki K,Udaka T,Okuyama T.DHPLC in clinical molecular diagnostic services[J].Mol Genet Metab,2005,86(1-2):117-123.
  • 4Deepak S,Kottapalli K,Rakwal R,et al.Real-time PCR:revolutionizing detection and expression analysis of genes[J].Curr Genomics,2007,8(4):234-251.
  • 5Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment[J].Nat Genet,1998,20(4):370-373.
  • 6Gao B,Guo J,She C,et al.Mutations in IHH,encoding Indian hedgehog,cause brachydactyly type A-1[J].Nat Genet,2001,28(4):386-388.
  • 7Gao B,Hu J,Stricker S,et al.A mutation in lhh that causes digit abnormalities alters its signalling capacity and range[J].Nature,2009,458(7242):1196-1200.
  • 8Chen YH,Xu SJ,Bendahhou S,et al.KCNQI gain-offunction mutation in familial atrial fibrillation[J].Science,2003,299(5604):251-254.
  • 9Yoo SM,Choi JH,Lee SY,et al.Applications of DNA microarray in disease diagnostics[J].J Microbiol Biotechnol,2009,19(7):635-646.
  • 10Ng SB,Turner EH,Robertson PD,et al.Targeted capture and massively parallel sequencing of 12 human exomes[J].Nature,2009,461(7261):272-276.

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