PGM技术介绍要点解析.ppt

Confidential and Proprietary—DO NOT DUPLICATE PGM在其他医学研究与临床上的应用 * Samples 15 plasma DNA samples isolated from maternal blood Standard SOLiD fragment library construction protocol ePCR Sequencing performed on an upgraded V2 instrument Each library deposited into a single spot on a quad array 3 fragment libraries/slide. 2 slides/instrument run. Bead density: ~130K/panel: today: 400K per panel Bioinformatics: Tags of 35 bp were mapped to repeat-masked hg18 reference genome SD of GR were calculated as following: 无创产筛（无创染色体异倍性检测） * * *Preliminary disease groups gene list based on OMIM available at /community *Preliminary Configuration Subject to Change Detection of germline variants at ~100X depth Use with Ion 316? Chip For Research Use Only. Not intended for any animal or human therapeutic or diagnostic use. ~300 genes, ~10,000 amplicons,* one day 单基因病检测 Cardiovascular 37 genes Developmental(发育，进化) 61 genes 30 genes Metabolic(代谢性疾病） Neuromuscular（神经肌肉） 81 genes Other; Immune（免疫）, cancer, etc… 94 genes Confidential and Proprietary—DO NOT DUPLICATE 可同时检测点突变、小的插入缺失（20bp）及大片段缺失、重复 检测区域涵盖了编码区的95%以上，准确度达99% 具有强大的生物信息分析能力，可快速准确地鉴别致病突变；构建了完善的疾病突变数据库和正常人遗传多态性数据库 适合多样本量同步检测 更全面 更精准 更专业 更经济 单基因病检测技术优势 Confidential and Proprietary—DO NOT DUPLICATE 46 genes, 739 mutations（突变） 肿瘤个体化治疗 For Research Use Only. Not intended for any animal or human therapeutic or diagnostic use. KRAS BRAF EGFR TP53 PIK3CA CSF1R FGFR2 JAK2 NRAS PTPN11 ERBB2 SRC FGFR3 NPM1 RB1 CDKN2A RET HNF1A SMAD4 GNAS PDGFRA MPL JAK3 ABL1 PTEN FLT3 STK11 SMARCB1 KIT MET VHL NOTCH1 HRAS AKT1 ALK MLH1 FBXW7 ERBB4 KDR ATM CDH1 IDH1 CTNNB1 APC FGFR1 SMO Report Report Remaining fwd rev primers (~ 10,000 rxns) shipped in plates to allow user optimization Remaining fwd rev primers (~ 10,000 rxns) shipped in plates to allow user optimization Chip Type Genome Coverage 500X (Somatic) 20X (Germline) Ion 314? 1 kb 10 kb Ion 316? 50 kb 100 kb Ion 318? 500kb 1,000 kb Total # of amplicons/pool Oligos per p