Scherer Andreas
Andreas Scherer, Spheromics, 81100 Kontiolahti, Finland.
World J Transplant. 2013 Dec 24;3(4):62-7. doi: 10.5500/wjt.v3.i4.62.
Massively parallel sequencing (MPS), alias next-generation sequencing, is making its way from research laboratories into applied sciences and clinics. MPS is a framework of experimental procedures which offer possibilities for genome research and genetics which could only be dreamed of until around 2005 when these technologies became available. Sequencing of a transcriptome, exome, even entire genomes is now possible within a time frame and precision that we could only hope for 10 years ago. Linking other experimental procedures with MPS enables researchers to study secondary DNA modifications across the entire genome, and protein binding sites, to name a few applications. How the advancements of sequencing technologies can contribute to transplantation science is subject of this discussion: immediate applications are in graft matching via human leukocyte antigen sequencing, as part of systems biology approaches which shed light on gene expression processes during immune response, as biomarkers of graft rejection, and to explore changes of microbiomes as a result of transplantation. Of considerable importance is the socio-ethical aspect of data ownership, privacy, informed consent, and result report to the study participant. While the technology is advancing rapidly, legislation is lagging behind due to the globalisation of data requisition, banking and sharing.
大规模平行测序(MPS),又称下一代测序,正从研究实验室进入应用科学和临床领域。MPS是一个实验程序框架,为基因组研究和遗传学提供了可能性,而在2005年左右这些技术出现之前,这些可能性还只是梦想。现在,在一个我们10年前只能奢望的时间框架和精度内,对转录组、外显子组甚至整个基因组进行测序已经成为可能。将其他实验程序与MPS相结合,使研究人员能够研究全基因组范围内的二级DNA修饰以及蛋白质结合位点等诸多应用。测序技术的进步如何为移植科学做出贡献是本次讨论的主题:直接应用包括通过人类白细胞抗原测序进行移植物匹配,作为系统生物学方法的一部分,该方法有助于揭示免疫反应期间的基因表达过程,作为移植物排斥的生物标志物,以及探索移植导致的微生物群落变化。数据所有权、隐私、知情同意以及向研究参与者报告结果等社会伦理方面相当重要。虽然技术在迅速发展,但由于数据获取、存储和共享的全球化,立法却滞后了。