Citation: | CHEN Yu, ZHANG Xuchao, GUO Weibang, YAN Wenqing, XIE Zhi, LYU Zhiyi, LU Danxia, HUANG Ying. Important Role of Deduplication Method in Next Generation Sequencing Data Analysis of Non-small Cell Lung Cancer[J]. Cancer Research on Prevention and Treatment, 2018, 45(1): 1-4. DOI: 10.3971/j.issn.1000-8578.2018.17.0954 |
To investigate the important role of deduplication method in next generation sequencing(NGS) data analysis by comparing the difference of indicators obtained from deduplication and duplication methods.
Tumor samples of a cohort of 58 NSCLC patients were collected. A panel of 286 genes was tested by NGS. The NGS data were analyzed by de-duplication method and common duplication method, respectively. Indicators of "Mapped Reads, On Target, Mean Depth and Uniformity" were compared.
The differences of Mapped Reads, On Target, Mean Depth and Uniformity were statistically significant between two methods, respectively(P < 0.001). Mapped Reads and On Target and Mean Depth analyzed by de-duplication method were found significantly different between plasma sample and other three types of samples, ie., formalin fixed and paraffin embedded(FFPE) sample and puncture biopsy and surgical tissue sample; while Uniformity was generated without significant difference between the four types of samples. The results by duplication analysis were opposite.
Deduplication step plays an important role in NGS data analysis, which could improve the Uniformity and reflect the real DNA template amount and allele frequency of genomic alterations. Deduplication result is helpful for clinical decision.
[1] |
Yang Y, Muany DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J]. N Engl J Med, 2013, 369(16): 1502-11. doi: 10.1056/NEJMoa1306555
|
[2] |
Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders[J]. JAMA, 2014, 312(18): 1880-7. doi: 10.1001/jama.2014.14604
|
[3] |
Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing[J]. JAMA, 2014, 311(10): 1035-45. doi: 10.1001/jama.2014.1717
|
[4] |
《临床分子病理实验室二代基因测序检测专家共识》编写组.临床分子病理实验室二代基因测序检测专家共识[J].中华病理学杂志, 2017, 46(3): 145-8. http://news.medlive.cn/cancer/info-progress/show-111693_53.html
Drafting group of expert consensus on gene detection of next generation sequencing in clinical molecular pathology laboratory. Expert consensus on gene detection of next generation sequencing in clinical molecular pathology laboratory[J]. Zhonghua Bing Li Xue Za Zhi, 2017, 46(3): 145-8. http://news.medlive.cn/cancer/info-progress/show-111693_53.html
|
[5] |
喻东, 郭瀛军.高通量测序临床应用中数据质量控制和分析若干问题的探讨[J].检验医学, 2017, 32(4): 255-61. http://www.shjyyx.com/CN/abstract/abstract7883.shtml
Yu D, Guo YJ. Next generation sequencing in quality control and analysis of data[J]. Jian Yan Yi Xue, 2017, 32(4): 255-61. http://www.shjyyx.com/CN/abstract/abstract7883.shtml
|