基因组重测序介绍（二）20131204.pdf

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基因组重测序介绍（二）20131204.pdf

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Identification of genetic variations based on genome re-sequencing Xiaosen Guo BGI SZ guoxs@ Outline 鈥 Background 鈥 Genome re-sequencing 鈥 Methodology 鈥 Genetic variations 鈥 SNP detection 鈥 Other variations 鈥 Practice 鈥 Sequencing 鈥 Alignment 鈥 Basic items 鈥 Practice on command line Background Background 鈥 Sanger sequencing Background 鈥 Chip sequencing is out of date. 鈥 Next generation Sequencing (NGS) time is coming鈥 Background 鈥 After genome De-novo assembly鈥 2000 2002 2006 2007 2012 2008 2009 Animals: had been sequenced Background 鈥 Re-sequencing is coming鈥鈥 Human genome 鈥 Plant / animal genome 鈥 Medical / disease research 鈥 Agriculture / Molecular breeding 鈥 Genomics / comparative genomics 鈥 Genetics / population genetics 鈥 Epigenetics 鈥鈥 Re-sequencing 鈥 Re-sequencing Vs. De-novo assembly Table Differences between re-sequencing and De novo Re-sequencing De novo Motive Genetic variations New genome Method Alignment Assembly Reference Yes No Depth 10~20X 50X Library Simple Various Data qua