CPAP: Cancer panel analysis pipeline

Po Jung Huang, Yuan Ming Yeh, Ruei Chi Gan, Chi Ching Lee, Ting Wen Chen, Cheng Yang Lee, Hsuan Liu, Shu Jen Chen*, Petrus Tang

*此作品的通信作者

研究成果: 期刊稿件文章同行評審

3 引文 斯高帕斯(Scopus)

摘要

Targeted sequencing using next-generation sequencing technologies is currently being rapidly adopted for clinical sequencing and cancer marker tests. However, no existing bioinformatics tool is available for the analysis and visualization of multiple targeted sequencing datasets. In the present study, we use cancer panel targeted sequencing datasets generated by the Life Technologies Ion Personal Genome Machine Sequencer as an example to illustrate how to develop an automated pipeline for the comparative analyses of multiple datasets. Cancer Panel Analysis Pipeline (CPAP) uses standard output files from variant calling software to generate a distribution map of SNPs among all of the samples in a circular diagram generated by Circos. The diagram is hyperlinked to a dynamic HTML table that allows the users to identify target SNPs by using different filters. CPAP also integrates additional information about the identified SNPs by linking to an integrated SQL database compiled from SNP-related databases, including dbSNP, 1000 Genomes Project, COSMIC, and dbNSFP. CPAP only takes 17 min to complete a comparative analysis of 500 datasets. CPAP not only provides an automated platform for the analysis of multiple cancer panel datasets but can also serve as a model for any customized targeted sequencing project.

原文英語
頁(從 - 到)1340-1346
頁數7
期刊Human Mutation
34
發行號10
DOIs
出版狀態已出版 - 10 2013

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