【摘要】：高通量測序又稱下一代測序(NGS),是一種新型的遺傳學篩查和診斷技術(shù),它的不斷革新加速了人們對遺傳學標志物及疾病分子機制的認識,特別是針對復雜遺傳性疾病。NGS技術(shù)的出現(xiàn)促使臨床基因診斷逐漸從單基因時代跨越到多基因時代。隨著靶向基因組測序、全外顯子組測序以及全基因組測序項目在臨床中的廣泛應用,醫(yī)務工作者將逐漸改變對復雜遺傳性疾病的管理策略,最終將依據(jù)遺傳學檢測結(jié)果對每一位患者進行2次分類并給予精準治療。另外,生物信息學分析方法的不斷更新和便捷的數(shù)據(jù)分析軟件包也使NGS在臨床診斷中的應用更加廣泛。文章中主要論述了現(xiàn)有NGS的主流平臺、現(xiàn)階段NGS在臨床分子診斷中的主要應用策略以及應用NGS檢測序列變異的數(shù)據(jù)分析方法。
[Abstract]:High-throughput sequencing, also known as next-generation sequencing (NGS), is a new genetic screening and diagnosis technology, and its continuous innovation has accelerated the understanding of genetic markers and molecular mechanisms of disease. Especially, the emergence of complex genetic disease. NGS technology promotes clinical gene diagnosis from single gene era to multi gene era. With the wide application of targeted genome sequencing, total exon sequencing and whole-genome sequencing projects in clinical practice, medical workers will gradually change their management strategies for complex genetic diseases. Each patient will eventually be classified twice and given accurate treatment based on genetic results. In addition, the continuous updating of bioinformatics analysis methods and convenient data analysis software also make NGS more widely used in clinical diagnosis. This paper mainly discusses the mainstream platform of NGS, the main application strategy of NGS in clinical molecular diagnosis and the data analysis method of detecting sequence variation with NGS.
【作者單位】： 哈爾濱醫(yī)科大學附屬第四醫(yī)院檢驗科;
【分類號】：R440

【相似文獻】

相關(guān)期刊論文 前3條

1 李兵,彭勁甫,王召欽,唐蔚,單金嵐,周伯平;不同用量BigDye在HBV測序檢測中的效果分析[J];實用醫(yī)技雜志;2004年05期

2 劉珍瓊;劉金輝;熊國亮;辛茶香;;套式PCR及測序法檢測痰中結(jié)核分枝桿菌耐乙胺丁醇embB基因突變[J];江西醫(yī)學院學報;2008年04期

3 ;[J];;年期

相關(guān)碩士學位論文 前3條

1 劉文麗;基于高通量測序的病原體篩查與確認[D];中國人民解放軍軍事醫(yī)學科學院;2016年

2 夏昊;基于二代測序的目標區(qū)段SNP識別數(shù)據(jù)流的建立與比較分析[D];東華大學;2016年

3 裴廣倩;純培養(yǎng)微生物全基因組深度測序研究[D];安徽醫(yī)科大學;2014年

，

本文編號：2244154