Search research articles

关于 JoVE

概览领导团队博客 JoVE 帮助中心

作者

出版流程编辑委员会范围与政策同行评审常见问题投稿

图书馆员

用户评价订阅访问资源图书馆顾问委员会常见问题

研究

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments 存档

教育

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual 教师资源中心教师网站

使用条款与条件

相关概念视频

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序

Same author

Healthy donor T cell receptors expand functional neoantigen recognition beyond patient vaccination.

Science advances·2026

Same author

Improved tumor-only variant calling and mutation burden estimation with VarNet-T.

Nature communications·2026

Same author

Prompt Engineering for Eastern Cooperative Oncology Group Status Extraction: Comparing Large Language Model Techniques.

JCO clinical cancer informatics·2026

Same author

Protrec2: tissue-specific network-based missing protein recovery method.

Briefings in bioinformatics·2025

Same author

Genomic platform specific polygenic risk scores impact breast cancer risk stratification.

Communications medicine·2025

Same author

Sanzi Yangqin Decoction alleviated epithelial barrier damage in acute lung injury by mediating CD40 in alveolar macrophages to inhibit necroptosis of pulmonary epithelial cells.

Phytomedicine : international journal of phytotherapy and phytopharmacology·2025

Search research articles

相关实验视频

Updated: Jan 8, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

在循环瘤DNA中调用突变的方法的全面基准测试.

Hanaé Carrié^1,2,3, Ngak Leng Sim¹, Pui Mun Wong¹

¹Genome Institute of Singapore (GIS), Agency for Science, Technology, and Research (A*STAR), Singapore, Singapore.

Nature communications

|December 17, 2025

概括

在无细胞DNA (cfDNA) 中检测癌症突变是很困难的. 这项研究使用患者样本创建了一个基准,以评估变异呼叫者,提高液体活检分析的准确性.

更多相关视频

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

相关实验视频

Last Updated: Jan 8, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

科学领域:

基因组学就是基因组学.
癌症研究癌症研究
生物信息学是一种生物信息学.

背景情况:

在无细胞DNA (cfDNA) 中检测体突变受到低变异异基因频率和DNA降解的限制.
准确检测瘤衍生的DNA对于非侵入性癌症诊断和监测至关重要.

研究的目的:

开发一个强大的基准分析策略,用于评估cfDNA中的体变异呼叫者.
评估各种循环瘤DNA (ctDNA) 水平和测序深度的变异调用者的表现.
为在液体活检应用中选择最佳变异调用方法提供指导.

主要方法:

利用来自结直肠癌和乳腺癌患者的纵向,与患者匹配的cfDNA样本.
通过将具有高和超低瘤衍生的DNA水平的样本结合起来,创建了受控稀释系列.
进行深度全基因组 (150x) 和外基因组 (2,000x) 测序以识别变异.
基准了九个体质变异呼叫者,并探索了用于呼叫者优化的机器学习.

主要成果:

定义了一个约有37,000个单核酸变体和58,000个indels的参考集合.
澄清了cfDNA中当前体质变异调用方法的检测极限.
确定了提高cfDNA分析变异呼叫器准确性的关键特征.

结论:

开发的基准分析策略为评估cfDNA分析方法提供了可靠的资源.
这些发现为在液体活检中选择和优化体变异呼叫者提供了实际指导.
在cfDNA中改进的变异检测对癌症诊断和个性化医学有重大影响.