洪媛媛
(2022-10-30 12:16):
#paper https://doi.org/10.1038/s41467-022-32995-6 nature communications 2022. Cost-effective methylome sequencing of cell-free DNA for accurately detecting and locating cancer. 这篇文章介绍了一种富集cfDNA CpG区域的NGS建库方法(cfMethyl-Seq),cfMethyl-Seq比全基因组甲基化测序更节省数据量,而且比传统的RRBS方法更适合用于cfDNA CpG区域的富集。该研究首先通过RRBS测序的癌症、癌旁组织样本,以及cfMethyl-Seq测序的健康人血浆样本,筛选出癌症早筛和组织溯源(TOO)marker,然后将cfMethyl-Seq测序的217癌症和131健康人血浆样本,分成训练集和测试集,在训练集建模,在测试集验证性能。
Cost-effective methylome sequencing of cell-free DNA for accurately detecting and locating cancer
翻译
Abstract:
Early cancer detection by cell-free DNA faces multiple challenges: low fraction of tumor cell-free DNA, molecular heterogeneity of cancer, and sample sizes that are not sufficient to reflect diverse patient populations. Here, we develop a cancer detection approach to address these challenges. It consists of an assay, cfMethyl-Seq, for cost-effective sequencing of the cell-free DNA methylome (with > 12-fold enrichment over whole genome bisulfite sequencing in CpG islands), and a computational method to extract methylation information and diagnose patients. Applying our approach to 408 colon, liver, lung, and stomach cancer patients and controls, at 97.9% specificity we achieve 80.7% and 74.5% sensitivity in detecting all-stage and early-stage cancer, and 89.1% and 85.0% accuracy for locating tissue-of-origin of all-stage and early-stage cancer, respectively. Our approach cost-effectively retains methylome profiles of cancer abnormalities, allowing us to learn new features and expand to other cancer types as training cohorts grow.
翻译