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单细胞中高度可扩展的 DNA 甲基化谱生成。

Highly scalable generation of DNA methylation profiles in single cells.

机构信息

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.

Illumina, Inc., San Diego, California, USA.

出版信息

Nat Biotechnol. 2018 Jun;36(5):428-431. doi: 10.1038/nbt.4112. Epub 2018 Apr 9.

DOI:10.1038/nbt.4112
PMID:29644997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5938134/
Abstract

We present a highly scalable assay for whole-genome methylation profiling of single cells. We use our approach, single-cell combinatorial indexing for methylation analysis (sci-MET), to produce 3,282 single-cell bisulfite sequencing libraries and achieve read alignment rates of 68 ± 8%. We apply sci-MET to discriminate the cellular identity of a mixture of three human cell lines and to identify excitatory and inhibitory neuronal populations from mouse cortical tissue.

摘要

我们提出了一种高通量的单细胞全基因组甲基化分析方法。我们采用单细胞组合索引甲基化分析（sci-MET）技术，生成了 3282 个单细胞亚硫酸氢盐测序文库，获得了 68±8%的读段比对率。我们应用 sci-MET 来区分三种人源细胞系的混合细胞的细胞身份，并从鼠大脑皮质组织中鉴定出兴奋性和抑制性神经元群体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e56/5938134/3814ba7584f2/nihms946865f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e56/5938134/37c7b8d75fa2/nihms946865f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e56/5938134/3814ba7584f2/nihms946865f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e56/5938134/37c7b8d75fa2/nihms946865f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e56/5938134/3814ba7584f2/nihms946865f2.jpg

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本文引用的文献

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Single-cell methylomes identify neuronal subtypes and regulatory elements in mammalian cortex.单细胞甲基化组鉴定哺乳动物皮层中的神经元亚型和调控元件。
Science. 2017 Aug 11;357(6351):600-604. doi: 10.1126/science.aan3351.
2
Genome-wide base-resolution mapping of DNA methylation in single cells using single-cell bisulfite sequencing (scBS-seq).利用单细胞亚硫酸氢盐测序（scBS-seq）进行单细胞全基因组碱基分辨率的 DNA 甲基化图谱绘制。
Nat Protoc. 2017 Mar;12(3):534-547. doi: 10.1038/nprot.2016.187. Epub 2017 Feb 9.
3
Sequencing thousands of single-cell genomes with combinatorial indexing.
采用scTAPS和scCAPS+在单细胞分辨率下进行直接且无需亚硫酸氢盐处理的5-甲基胞嘧啶和5-羟甲基胞嘧啶测序。
Genome Biol. 2025 Aug 18;26(1):244. doi: 10.1186/s13059-025-03708-1.
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EnrichSci: Transcript-guided Targeted Cell Enrichment for Scalable Single-Cell RNA Sequencing.EnrichSci：用于可扩展单细胞RNA测序的转录本引导靶向细胞富集
bioRxiv. 2025 May 8:2025.05.02.651937. doi: 10.1101/2025.05.02.651937.
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Spatial joint profiling of DNA methylome and transcriptome in mammalian tissues.哺乳动物组织中DNA甲基化组和转录组的空间联合分析
bioRxiv. 2025 Jul 4:2025.07.01.662607. doi: 10.1101/2025.07.01.662607.
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Artificial Intelligence in cancer epigenomics: a review on advances in pan-cancer detection and precision medicine.癌症表观基因组学中的人工智能：泛癌检测与精准医学进展综述
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