PGM技术介绍.pptVIP

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 availa