相关实验视频

Updated: Jul 6, 2025

Author Spotlight: Multi-Layered Approach to Understand Postnatal Functions of Pancreatic Islets in Non-Human Primates

Author Spotlight: Multi-Layered Approach to Understand Postnatal Functions of Pancreatic Islets in Non-Human Primates

Published on: November 8, 2024

通过深度学习模型从早期妊娠阶段的无细胞DNA中识别妊娠糖尿病

Yipeng Wang¹, Pei Sun², Zicheng Zhao^3,4

¹Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026, P. R. China.

Briefings in bioinformatics

|January 3, 2024

概括

通过无细胞DNA (cfDNA) 分析和机器学习,可以对妊娠糖尿病 (GDM) 进行早期查. 这种新的方法可以在怀孕早期检测GDM生物标志物,改善孕产妇和胎儿的健康结果.

科学领域:

基因组学和生物信息学
孕产妇和胎儿医学孕产妇和胎儿医学
计算生物学计算生物学

背景情况:

孕期糖尿病 (GDM) 对母亲和胎儿构成重大风险,全球发病率不断增加.
目前的GDM诊断发生在妊娠晚期 (24周后),缺少早期并发症.
在无细胞DNA (cfDNA) 中的拷贝数变异 (CNV) 是GDM的潜在早期生物标志物.

研究的目的:

开发和验证用于早期GDM查的机器学习模型,使用母体血cfDNA测序数据.
为了识别与GDM相关的早期妊娠CNV生物标志物.
评估基于cfDNA的GDM查可行性,以便及时进行干预.

主要方法:

一个机器学习模型,特别是一个带有注意力的卷积神经网络,被开发用于二进制分类.
分析了来自中国北部5085名孕妇 (1942年患有GDM) 的低覆盖率cfDNA测序数据 (~0.2×).
使用非重叠的滑动窗口方法来选CNV覆盖范围.

主要成果:

该模型实现了高性能:准确率为88.14%,精度为84.07%,回忆率为93.04%,F1得分为88.33%,AUC为96.49%.
确定了2190个与GDM相关的基因,包括DEFA1,DEFA3和DEFB1.
丰富的基因本体学和KEGG通路分析将已识别的基因与糖尿病相关的通路联系起来.

结论:

对cfDNA测序数据的机器学习分析可以在怀孕期间早期进行GDM查.
这种方法对早期GDM诊断充满希望,促进及时干预和改善妊娠结果.
母亲cfDNA中的CNV是早期GDM检测的可行的生物标志物.

关键词:

没有细胞的DNA DNA.副本数量的变化副本数量的变化深度学习是一种深度学习.孕期糖尿病孕期糖尿病

更多相关视频

Measurement of Differentially Methylated INS DNA Species in Human Serum Samples as a Biomarker of Islet β Cell Death

Measurement of Differentially Methylated INS DNA Species in Human Serum Samples as a Biomarker of Islet β Cell Death

Published on: December 21, 2016

Author Spotlight: Exploring the Long-Term Health Impacts of Intracytoplasmic Sperm Injection on Offspring

Author Spotlight: Exploring the Long-Term Health Impacts of Intracytoplasmic Sperm Injection on Offspring

Published on: May 17, 2024

相关概念视频

Diabetes Mellitus: Type 2 and Gestational

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...

Pathophysiology of Diabetes

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...