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Updated: Jul 21, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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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 Korbel1,2

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

bioRxiv : the preprint server for biology
|July 28, 2023
PubMed
概括

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.

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RNA-seq03:21

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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