数据与计算发展前沿2024，Vol.6Issue(5)：139-147,9.DOI:10.11871/jfdc.issn.2096-742X.2024.05.013
基因组变异检测分析流程
Genome Variation Detection and Analysis Process
摘要
Abstract
[Objective]This paper discusses the analysis workflow and limitations of genomic variation detection.[Scope of the literature]We collected and reviewed the related literature on the ge-nomic variation detection workflow.[Methods]Firstly,a brief overview of the genomic varia-tion detection analysis workflow is provided,followed by an in-depth discussion of the three key aspects of data quality control:raw data quality control,alignment quality control,and vari-ant calling quality control.Data preprocessing will be introduced in terms of read alignment,sorting,and duplicate removal.Subsequently,the variation detection process are summarized,encompassing variant data monitoring,quality control,filtering,and annotation.Finally,an overview and prospects of the existing challenges are presented.[Results]With the advance-ment of next-generation sequencing technology,the genomic variation detection process is be-coming more efficient,accurate,and scalable.[Limitations]Challenges include limitations in sequencing read length and the need for validation in clinical laboratory applications.[Conclu-sions]This workflow is of research significance for understanding the current status and developmental trends of genomic variation detection analysis.关键词
数据预处理/质量控制/变异检测/全基因组测序/变异注释Key words
data preprocessing/quality control/mutation detection/whole genome sequencing/mutation annotation引用本文复制引用
栾海晶,牛北方..基因组变异检测分析流程[J].数据与计算发展前沿,2024,6(5):139-147,9.基金项目
国家自然科学基金(92259101) （92259101）
中国科学院战略性先导科技专项(B类)(XDB38040100) （B类）
