Applications using next generation sequencing technology

• 作 者: WangJun;ZhangYong;
• 机 构: Beijing Genomics Institute-Shenzhen
• 出 处: 第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)
• 发表日期: 2009年期

　　In the past, traditional disease research is only focus on single/a few genes.It is hypothesis-driven research mode.Re cently two years, Functional genome research takes advantage of newly available genome sequences and high-throughput genome tech nologies to study genes and/or proteins to inform the perspective of entire biological processes.The next generation sequencing technol ogy speed up the whole research process.Disease research became to data-driven.We can use the next-generation of sequencing ap plied as follows: Whole genome resequencing, Exome-capture sequencing, Transcriptome, Digital gene expression profiling, MicroRNA, Epigenome, Pathogen, In order to define structural rearrangements and CNV, to define coding sequence mutation, to define alter ation in expression levels, aberrant splicing and fusion transcripts, to defined the relation with the virus.Decreasing costs has enabled the sequencing of individual human genomes.Genome data of the Chinese population will be rapidly accumulated and will result in the identification of new gene-disease associations and wide applications of genomics in clinics.