小柯机器人

英国剑桥大学Shankar Balasubramanian等研究人员合作实现DNA中遗传和表观遗传碱基的同时测序。2023年2月6日，国际知名学术期刊《自然—生物技术》在线发表了这一成果。

研究人员提出了一个单碱基分辨率测序方法，其在一个单一的工作流程中测序完整的遗传学和两个最常见的胞嘧啶修饰。DNA被复制，并且碱基被酶转化。跨原链和复制链的碱基耦合解码提供了一个分阶段的数字读出。该方法从一个癌症患者的血液样本中证明了人类基因组DNA和游离DNA。该方法是准确的，需要低DNA投入，并具有简单的工作流程和分析管线。与此同时，遗传和表观遗传碱基的分阶段阅读提供了存储在基因组中信息的更完整图像，并在整个生物医学领域都有应用。

研究人员表示，DNA由存储在遗传和表观遗传碱基中的分子信息组成，这两个碱基对理解生物学至关重要。大多数DNA测序方法要么处理遗传学，要么处理表观遗传学，它们捕获的信息不完整。广泛用于检测表观遗传DNA碱基的方法不能捕获常见的C-to-T突变或区分5-甲基胞嘧啶和5-羟甲基胞嘧啶。

附：英文原文

Title: Simultaneous sequencing of genetic and epigenetic bases in DNA

Author: Fllgrabe, Jens, Gosal, Walraj S., Creed, Pid, Liu, Sidong, Lumby, Casper K., Morley, David J., Ost, Tobias W. B., Vilella, Albert J., Yu, Shirong, Bignell, Helen, Burns, Philippa, Charlesworth, Tom, Fu, Beiyuan, Fordham, Howerd, Harding, Nicolas J., Gandelman, Olga, Golder, Paula, Hodson, Christopher, Li, Mengjie, Lila, Marjana, Liu, Yang, Mason, Joanne, Mellad, Jason, Monahan, Jack M., Nentwich, Oliver, Palmer, Alexandra, Steward, Michael, Taipale, Minna, Vandomme, Audrey, San-Bento, Rita Santo, Singhal, Ankita, Vivian, Julia, Wjtowicz, Natalia, Williams, Nathan, Walker, Nicolas J., Wong, Nicola C. H., Yalloway, Gary N., Holbrook, Joanna D., Balasubramanian, Shankar

Issue&Volume: 2023-02-06

Abstract: DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology. Most DNA sequencing approaches address either genetics or epigenetics and thus capture incomplete information. Methods widely used to detect epigenetic DNA bases fail to capture common C-to-T mutations or distinguish 5-methylcytosine from 5-hydroxymethylcytosine. We present a single base-resolution sequencing methodology that sequences complete genetics and the two most common cytosine modifications in a single workflow. DNA is copied and bases are enzymatically converted. Coupled decoding of bases across the original and copy strand provides a phased digital readout. Methods are demonstrated on human genomic DNA and cell-free DNA from a blood sample of a patient with cancer. The approach is accurate, requires low DNA input and has a simple workflow and analysis pipeline. Simultaneous, phased reading of genetic and epigenetic bases provides a more complete picture of the information stored in genomes and has applications throughout biomedicine.

DOI: 10.1038/s41587-022-01652-0

Source: https://www.nature.com/articles/s41587-022-01652-0

Nature Biotechnology：《自然—生物技术》，创刊于1996年。隶属于施普林格·自然出版集团，最新IF：68.164
官方网址：https://www.nature.com/nbt/
投稿链接：https://mts-nbt.nature.com/cgi-bin/main.plex