摘要
目的研究单基因病遗传变异的自动化分析和智能化解读,以满足单基因病相关临床和科研的精准医学需求。方法该研究采用信息学技术,建立单基因病基因变异参考数据库,参考GATK最佳实践对遗传变异进行分析和识别,参考ACMG单基因病变异临床致病性分级标准对遗传变异进行分级,根据患者疾病表型、遗传变异的变异类型、人群发生频率、预测的变异功能、临床显著性分级、数据库证据等信息对遗传变异进行综合评分和推荐。结果单基因病基因变异参考数据库整合了5654种单基因病相关的26109个基因上的648814个遗传变异。基于云的单基因病遗传变异分析解读系统实现了单基因病遗传变异的自动化分析和智能化解读,并通过www.pgenomics.cn提供免费共享服务。结论单基因病遗传变异分析解读系统可帮助单基因病领域相关的临床医生进行遗传学精准诊断,加快单基因病领域相关科研人员的研究发现。
Objective : To study the automatic analysis and intelligent interpretation of genetic variation to meet the precise medical needs of clinical and scientific research related to monogenic diseases. Methods : The integrated reference database of genes and variations related to monogenic diseases were established by informatics technology. The variations were analyzed and identified according to GATK Best Practices. The pathogenicity of all the mutations was evaluated by the standards and guidelines of ACMG. The comprehensive scores of each variation were calculated based on the information of variation type,population frequency,predicted function,clinical significance classification,and evidences etc.,and the most likely pathogenic variations were recommended finally. Results : In total,there were 648 814 genetic variations of 26 109 genes related to 5 654 monogenic diseases included in the reference database of genetic variation. Automatic analysis and intelligent interpretation of genetic variation were realized on the analysis and interpretation system based on the cloud. The system provided sharing services through www.pgenomics.cn. Conclusions : The analysis and interpretation system for monogenic diseases can help clinicians to make precise diagnosis of genetic etiology,and accelerate the novel variations to be identified in the field of monogenic diseases.
作者
曹宗富
喻浴飞
陈翠霞
蔡瑞琨
李乾
罗敏娜
高华方
马旭
CAO Zong-fu;YU Yu-fei;CHEN Cui-xia;CAI Rui-kun;LI Qian;LUO Min-na;GAO Hua-fang;MA Xu(National Research Institute for Family Planning,Beijing 100081;National Centre for Human Genetic Resources,Beijing 102206)
出处
《生殖医学杂志》
CAS
2019年第7期791-796,共6页
Journal of Reproductive Medicine
基金
国家十三五重点专项(2016YFC1000307)
中央级公益性科研院所基本科研业务费专项(2019GJZ07)
关键词
单基因病
遗传变异
精准医学
解读
自动化
Monogenic diseases
Genetic variation
Precision Medicine
Interpretation
Automation
