颜林林 (2022-09-25 15:32):
#paper doi:10.1101/2022.09.20.22280143 medRxiv, 2022, Whole-Genome Promoter Profiling of Plasma Cell-Free DNA Exhibits Predictive Value for Preterm Birth. 这篇文章试图从孕期母亲外周血cfDNA中发现早产相关生物标志物。对20例足月与20例早产的入组孕产妇进行全基因组测序,以及相应胎盘和外周血的全转录组测序,从中找到差异表达基因,并与外周血cfDNA中相应基因上游调控序列的覆盖深度进行关联,由此得到的特征,在2590例孕产妇(2072足月对518早产)的NIPT数据中进行验证,并预期此检测将为当前NIPT服务提供更多附加价值。这是一篇预发表文章,其摘要仅仅提及最后的两千多例的模型及性能,与正文整体逻辑还是有一定区别的,显然其文章逻辑还需要再继续打磨,不过这套数据及结果还是挺值得关注下的。
Whole-Genome Promoter Profiling of Plasma Cell-Free DNA Exhibits Predictive Value for Preterm Birth
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Abstract:
Preterm birth (PTB) occurs in around 11% of all births worldwide, resulting in significant morbidity and mortality for both mothers and offspring. Identification of pregnancies at risk of preterm birth in early pregnancy may help improve intervention and reduce its incidence. However, there exist few methods for PTB prediction developed with large sample size, high throughput screening and validation in independent cohorts. Here, we established a large scale, multi center, and case control study that included 2,590 pregnancies (2,072 full term and 518 preterm pregnancies) from three independent hospitals to develop a preterm birth classifier. We implemented whole genome sequencing on their plasma cfDNA and then their promoter profiling (read depth spanning from -1 KB to +1 KB around the transcriptional start site) was analyzed. Using three machine learning models and two feature selection algorithms, classifiers for predicting preterm delivery were developed. Among them, a classifier based on the support vector machine model and backward algorithm, named PTerm (Promoter profiling classifier for preterm prediction), exhibited the largest AUC value of 0.878 (0.852-0.904) following LOOCV cross validation. More importantly, PTerm exhibited good performance in three independent validation cohorts and achieved an overall AUC of 0.849 (0.831-0.866). Taken together, PTerm could be based on current noninvasive prenatal test (NIPT) data without changing its procedure or adding detection cost, which can be easily adapted for preclinical tests.
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