mutation discovery in regions of segmental cancer genome amplifications with conan-snv a mixture model for next generation sequencing of tumors突变的发现地区的节段性癌症基因组的扩增conan-snv下一代测序的混合模型的肿瘤.pdfVIP
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mutation discovery in regions of segmental cancer genome amplifications with conan-snv a mixture model for next generation sequencing of tumors突变的发现地区的节段性癌症基因组的扩增conan-snv下一代测序的混合模型的肿瘤
Mutation Discovery in Regions of Segmental Cancer Genome Amplifications with CoNAn-SNV: A Mixture Model for Next Generation Sequencing of Tumors 1 1,2 1 1,3 1 1 Anamaria Crisan , Rodrigo Goya , Gavin Ha , Jiarui Ding , Leah M. Prentice , Arusha Oloumi , 3 3 2 2 2 4 Janine Senz , Thomas Zeng , Kane Tse , Allen Delaney , Marco A. Marra , David G. Huntsman , 2 1 1,5 Martin Hirst , Sam Aparicio , Sohrab Shah * 1 Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada, 2 Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada, 3 Department of Computer Science, University of British Columbia, Vancouver, British Columbia, Canada, 4 Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada, 5 Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Abstract Next generation sequencing has now enabled a cost-effective enumeration of the full mutational complement of a tumor genome—in particular single nucleotide variants (SNVs). Most current computational and statistical models for analyzing next generation sequencing data, however, do not account for cancer-specific biological properties, including somatic segmental copy number alterations (CNAs)—which require special treatment of the data. Here we present CoNAn-SNV (Copy Number Annotated SNV): a no
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