Classifying Complex Structural Variations in Cancer Genomes with Breaking Pattern

来源 :The 4th International Conference of Genomics Beyond Biologic | 被引量 : 0次 | 上传用户：haiwei2009

【摘要】

：

　　We developedcatching structure with breaking pattern(CASbreak),a method that uses breaking pattern in alignment to identify structural variations(SV)and cla

【作者】

：

Lingtong Hao Lihua Cao Qianfei Wang Shaoping Ling

【机构】

：

BeijingInstituteofGenomics,ChineseAcademyofSciences,Beijing100101,China

【出处】

：

The 4th International Conference of Genomics Beyond Biologic

【发表日期】

：

2015年10期

【关键词】

：

Bayesian Structure Variation SV Detection

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　　We developedcatching structure with breaking pattern(CASbreak),a method that uses breaking pattern in alignment to identify structural variations(SV)and classify them into 16 different types.Simulated results showed that CASbreak outcompeted popular SV detectors in classification on SV.Finally,CASbreak identified the most complex MLL gene fusion in a patient of acute myeloid leukemia(AML)and achieved high accuracy in the latest ICGC-TCGA Dream Somatic Mutation Challenge.

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Classifying Complex Structural Variations in Cancer Genomes with Breaking Pattern

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