摘要
随着测序技术的日臻成熟及其在基因病诊断应用中的日益普及,测序数据的处理已成为临床基因诊断的一个重要环节.近年来,各类软件和数据库的开发,已使得对高通量测序数据的变异筛查流程变得更加完善、便捷.然而,将筛查到的变异与疾病表型进行关联,并对该变异可能的致病机理和分子机制进行进一步验证和阐述,仍是临床基因诊断所面临的重要挑战.本文将对测序数据处理的流程进行简要的介绍,并对常用的表型-基因型关联工具和方法、以及基因诊断中基因组的功能分析和验证方法进行综述.
With the advance of high-throughtput sequencing technology and its extensive application in clinical diagnosis,analysis of sequencing data has become an important part of clinical diagnosis.To date,the development and establishment of various software and databases have made it convenient to extract useful information from massive amounts of high-throughput sequencing data.However,it is still a challenge for correlating the clinical-genetic diagnosis based on the abovementioned sequence data with the screened DNA variations and disease phenotypes.Further validation of the proposed pathogenesis with the discovered molecular defects are required.Here a comprehensive review is provided for the strategies of sequencing data analysis,commonly used phenotype-genotype correlation tools,and functional analysis and verification methods for the genetic diagnosis.
作者
韩亚丽
周在威
张敬之
Han Yali;Zhou Zaiwei;Zhang Jingzhi(Shanghai Institute of Medical Genetics,Children’s Hospital of Shanghai,Children’s Hospital Affiliated to Shanghai Jiao Tong University,Shanghai200040,China;Key Laboratory of EmbryoMolecular Biology,Ministry of Health,Shanghai Key Laboratory of Embryo and Reproduction Engineering,Shanghai200040,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期508-512,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81570172).
关键词
测序技术
数据分析
基因关联
软件
数据库
Sequencing technology
Data analysis
Gene association
Software
Database
作者简介
通信作者:张敬之,Email:jzhan938@hotmail.com
