Abstract 5288: Dynamic genomic indexing enables accurate somatic variant detection from cancer genome sequencing without sequence alignment limitations

Author(s):  
HoJoon Lee ◽  
Jacob J. Parker ◽  
John Bell ◽  
Hanlee P. Ji
2021 ◽  
Vol 11 ◽  
Author(s):  
Xiaoyu He ◽  
Yu Zhang ◽  
Danyang Yuan ◽  
Xinyin Han ◽  
Jiayin He ◽  
...  

Next-generation sequencing (NGS) has drastically enhanced human cancer research, but diverse sequencing strategies, complicated open-source software, and the identification of massive numbers of mutations have limited the clinical application of NGS. Here, we first presented GPyFlow, a lightweight tool that flexibly customizes, executes, and shares workflows. We then introduced DIVIS, a customizable pipeline based on GPyFlow that integrates read preprocessing, alignment, variant detection, and annotation of whole-genome sequencing, whole-exome sequencing, and gene-panel sequencing. By default, DIVIS screens variants from multiple callers and generates a standard variant-detection format list containing caller evidence for each sample, which is compatible with advanced analyses. Lastly, DIVIS generates a statistical report, including command lines, parameters, quality-control indicators, and mutation summary. DIVIS substantially facilitates complex cancer genome sequencing analyses by means of a single powerful and easy-to-use command. The DIVIS code is freely available at https://github.com/niu-lab/DIVIS, and the docker image can be downloaded from https://hub.docker.com/repository/docker/sunshinerain/divis.


2014 ◽  
Vol 30 (17) ◽  
pp. 2498-2500 ◽  
Author(s):  
Weixin Wang ◽  
Panwen Wang ◽  
Feng Xu ◽  
Ruibang Luo ◽  
Maria Pik Wong ◽  
...  

2011 ◽  
Vol 12 (1) ◽  
pp. 407-430 ◽  
Author(s):  
Kit Man Wong ◽  
Thomas J. Hudson ◽  
John D. McPherson

2013 ◽  
Vol 340 (2) ◽  
pp. 152-160 ◽  
Author(s):  
Lalit R. Patel ◽  
Matti Nykter ◽  
Kexin Chen ◽  
Wei Zhang

2014 ◽  
Vol 31 (1) ◽  
pp. 116-118 ◽  
Author(s):  
Kenichi Chiba ◽  
Yuichi Shiraishi ◽  
Yasunobu Nagata ◽  
Kenichi Yoshida ◽  
Seiya Imoto ◽  
...  

10.1186/gm495 ◽  
2013 ◽  
Vol 5 (10) ◽  
pp. 91 ◽  
Author(s):  
Qingguo Wang ◽  
Peilin Jia ◽  
Fei Li ◽  
Haiquan Chen ◽  
Hongbin Ji ◽  
...  

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