使用 SPLASH2 从原始测序读取中进行可扩展且无监督的发现。
Scalable and unsupervised discovery from raw sequencing reads using SPLASH2.
发表日期：2024 Sep 23
作者：
Marek Kokot, Roozbeh Dehghannasiri, Tavor Baharav, Julia Salzman, Sebastian Deorowicz
来源：
NATURE BIOTECHNOLOGY
摘要：
我们推出了 SPLASH2，这是一种快速、可扩展的 SPLASH 实现，基于高效的 k 聚体计数方法，用于检测来自各种测序技术和生物背景的海量数据集中的受控序列变异。我们在单细胞 RNA 测序 (RNA-seq) 数据和来自癌细胞系百科全书的批量 RNA-seq 数据中展示了 SPLASH2 的生物学发现，包括癌症转录组中未注释的选择性剪接和环状 RNA 的灵敏检测。© 2024。作者获得 Springer Nature America, Inc. 的独家许可。
We introduce SPLASH2, a fast, scalable implementation of SPLASH based on an efficient k-mer counting approach for regulated sequence variation detection in massive datasets from a wide range of sequencing technologies and biological contexts. We demonstrate biological discovery by SPLASH2 in single-cell RNA sequencing (RNA-seq) data and in bulk RNA-seq data from the Cancer Cell Line Encyclopedia, including unannotated alternative splicing in cancer transcriptomes and sensitive detection of circular RNA.© 2024. The Author(s), under exclusive licence to Springer Nature America, Inc.