基因组测序的原理与方法.ppt

基因组学研究成果将走近人类的健康与生活 疾病相关基因的发现、功能的鉴定和分子机制的探讨 突破常见病（复杂疾病）基因水平的研究 以基因为基础的疾病诊断、预测和预防 基因治疗与细胞治疗治疗的结合 以基因多态性为基础的“个体化”药物 以基因多态性为基础的“个体健康计划” 传统药物、生物药物和“有机药物”的自然回归 走向人类赖以生存的物质基础 抗病、抗虫和抗极端环境GM农作物 高生殖率、高生长率、高营养率的GM家畜、家禽和水产品新品种 维生素和营养物质富集的水果和蔬菜 生物杀虫剂、除草剂和抗病药物 微生态环境下生产的有机食品 走向人类赖以生存的环境 基因组信息记录了物种亿万年来在环境变迁中起源和进化的历史。 生物多样性资源的研究、保护与开发：地球上估计有1亿个物种 生态环境的研究、保护与开发： 巨大的海洋（占地球总面积71％） 广袤的森林（占地球总面积40％） 诸多的湖泊与河流 谢谢！ * Fastq and Quality Solexa reads of the Fastq format s_1_1_sequence.txt… @HWI-EAS724_0001:8:32:374:374#0/1 GAGCTGTATATGAATAATAGTTCGTTTTTCATTATCCAAGATGGATCGGTATAAAGTCTGCTAAAATAAAGGTACAACG +HWI-EAS724_0001:8:32:374:374#0/1 fcfcfggdfggggfggggcggggggggfgggggcgggfWgggggggggfgcggdgcgcggggfacbbb][bgcgggggd s_1_2_sequence.txt … @HWI-EAS724_0001:8:32:374:374#0/2 TACCGTTAATAGCAGTAATATCATAATAGTAATAGCATCATAACGGTAGTCCCATAAAAGTGTGTCAGTAGTAGTAGTA +HWI-EAS724_0001:8:32:374:374#0/2 ggggfgggggd_adcggggeggfggeggegf`geececdegggggfegcfegggegggfgac[aced`bd__\_c[[Yb Illumina 1.3 format encodes a Phred quality score from 0 to 40 using ASCII 64 to 104 error probability (p): # for solexa: p = 0.01, Q = 19; p = 0,05, Q = 12.8, p = 0.10, Q = 9.5; # for phred: p = 0.01, Q = 20; p = 0,05, Q = 13, p = 0.10, Q = 10; Data assessment I – Read quality distribution Low Quality ? High Quality Trim: 3’ end trim if QN 20 Filter: Percent (hight quality Q 30) 60 Assessment: Distance Distrubition between two Low quality (Q20) 454 dinucleotide proportion check 454 raw reads quality Data assessment II – Library insert size Numbers of reads with non-insert DNA (full length adapter) in different insert size libraries Data assessment III – Mapping Rate Solexa Sequencing Data Usage in 500bp Library Data assessment IV – Duplication assessment Duplicates detection and filter F R N N 2N Qaverage 20 ? Lane data usage in different solexa library- Fiter duplication reads Average Reads per StartPoint Read CorrectionCorrect Illumina GA short reads Kmer = 17 Genome Size Prediction: M = N * (