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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...

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Updated: Jul 21, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

MosaiCatcher v2:一个基于Strand-seq的单细胞结构变异检测和分析参考框架.

Thomas Weber¹, Marco Raffaele Cosenza¹, Jan Korbel^1,2

¹European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany.

bioRxiv : the preprint server for biology

|July 28, 2023

概括

此摘要是机器生成的。

MosaiCatcher v2 是一个新的工作流程,用于检测单个细胞中的结构变异 (SV) 使用 Strand 测序. 这种工具提高了可复制性,并使人类遗传学研究中的高级基因组分析成为可能.

更多相关视频

Detection of Copy Number Alterations Using Single Cell Sequencing

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Published on: February 17, 2017

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

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相关实验视频

Last Updated: Jul 21, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

Published on: March 12, 2021

科学领域:

基因组学就是基因组学.
计算生物学计算生物学
一个单细胞分析.

背景情况:

单细胞DNA模板链序列化 (Strand-seq) 是一种强大的基因组分析技术,包括哈普洛型分相和结构变异 (SV) 检测.
在单细胞水平上准确和可复制的SV检测对于理解基因组异质性和进化至关重要.

研究的目的:

介绍 MosaiCatcher v2,一个标准化的工作流程和参考框架,用于使用 Strand-seq.q. 来检测单细胞 SV.
引入用于自动化质量控制,组装和SV表征的新功能.
为了使 Strand-seq 数据在生产环境中能够进行可复制的计算处理.

主要方法:

开发自动化的上游质量控制 (QC) 和组装子工作流.
整合了多步规范化模块和多个基因组组件.
集成scNOVA用于SV功能表征和ArbiGent用于SV基因定型.

主要成果:

MosaiCatcher v2为单细胞SV检测提供了一个标准化和可重复的框架.
工作流包括自动化QC,组装,规范化和SV特性/基因型定型.
平台的可移植性和用户友好的网络报告提高了可用性和数据共享.

结论:

MosaiCatcher v2显著提高了Strand-seq数据的计算处理的可重现性.
这种标准化框架有助于在人类遗传学和单细胞基因组学的生产环境中使用Strand-seq.
增强的功能使单细胞SV检测更强大,更全面.