MALBAC-PGD成功阻断遗传性多囊肾.pdfVIP

Single cell genome sequencing: from technical development to clinical applications – PGD and NICS 单细胞全基因组测序: 从技术建立到临床应用-PGD/NICS Sijia Lu 陆思嘉, PhD. lusijia@ Disclosure 声明 Cofounder, board member, shareholder and CEO of Yikon Genomics 共同创始人、董事、股东、CEO ，亿康基因 Whole Genome Sequencing （全基因组测序） 基因组：决定机体功能的最小单元 Genome: Defines biological function and disease Single Cell Genome Sequencing （单细胞基因组测序） Single Cell: Finest resolution of studying genome function 单细胞：研究基因组功能的最高分辨率 Single cell studies are important when… • All cells are unique (e.g. germline cells, T cells) 每个细胞基因组均不同 （如生殖细胞，T细胞） • Genome changes with time (e.g. cancer cells) 基因组随时间变化（如肿瘤细胞） • Heterogeneity, mosaicism （e.g. cancer, stem cells, embryos) 组织异质性，嵌合（如肿瘤、干细胞、胚胎） • Clincal diagnosis: when sample amount is limited (e.g. PGD, needle biopsy, CTC) 临床检验：当样本量稀少(如PGD ，微穿刺，肿瘤循环细胞） Whole genome amplification, WGA （全基因组扩增技术） From a single cell (pg level of DNA) to microgram level of DNA amount PCR-based methods Amplification bias 扩增偏倚 Low genome coverage 低基因组覆盖率 High Allele drop-out (ADO) Telenius H, et al. Genomics, 1992,13(3): 718-725. Multiple displacement amplification (MDA) Improved genome coverage Improved allele drop-out (ADO) Amplification bias 扩增偏倚 Dean FB, et al. Genome Research, 2001, 11(6): 1095-1099. Multiple Annealing and Looping-based amplification cycles (MALBAC) High genome coverage (90%)