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Somatic SV detection and validation

HC Heyang Cui
YZ Yong Zhou
FW Fang Wang
CC Caixia Cheng
WZ Weimin Zhang
RS Ruifang Sun
LZ Ling Zhang
YB Yanghui Bi
MG Min Guo
YZ Yan Zhou
XW Xinhui Wang
JR Jiaxin Ren
RB Ruibing Bai
ND Ning Ding
CC Chen Cheng
LW Longlong Wang
XZ Xuehan Zhuang
MG Mingwei Gao
YW Yongjia Weng
YW Yueguang Wu
HL Huijuan Liu
SL Shuaicheng Li
SW Shubin Wang
XC Xiaolong Cheng
YC Yongping Cui
ZL Zhihua Liu
QZ Qimin Zhan
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We applied SvABA20 and Delly21 to predict somatic SVs and their breakpoints using the suggested parameters. Recurrent SVs of different individuals from SvABA are regarded as germline events. SVs with Q value less than 10 are filtered. Delly-private SVs are manually checked. Of which SV that associate with copy number change are kept and merged into the SvABA cohort as the final cohort. Tumor samples from three patients are re-sequenced. The validation accuracy for these three patients is 93.25%, 90.33%, and 78.14%. Copy number changes from the patient with low accuracy exhibit intratumoral heterogeneity(Supplementary Fig. 3)

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