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RATTLE:基于纳米孔测序的无参转录组重构和定量分析。

RATTLE: reference-free reconstruction and quantification of transcriptomes from Nanopore sequencing.

机构信息

EMBL Australia Partner Laboratory Network at the Australian National University, Acton, Canberra, ACT, 2601, Australia.

Pompeu Fabra University (UPF), E08003, Barcelona, Spain.

出版信息

Genome Biol. 2022 Jul 8;23(1):153. doi: 10.1186/s13059-022-02715-w.

Abstract

Nanopore sequencing enables the efficient and unbiased measurement of transcriptomes. Current methods for transcript identification and quantification rely on mapping reads to a reference genome, which precludes the study of species with a partial or missing reference or the identification of disease-specific transcripts not readily identifiable from a reference. We present RATTLE, a tool to perform reference-free reconstruction and quantification of transcripts using only Nanopore reads. Using simulated data and experimental data from isoform spike-ins, human tissues, and cell lines, we show that RATTLE accurately determines transcript sequences and their abundances, and shows good scalability with the number of transcripts.

摘要

纳米孔测序能够高效且无偏地测量转录组。目前用于转录本鉴定和定量的方法依赖于将reads 映射到参考基因组,这排除了对部分或缺少参考基因组的物种的研究,或对难以从参考基因组鉴定的疾病特异性转录本的研究。我们提出了 RATTLE,这是一种仅使用纳米孔读取来执行无参考重建和转录本定量的工具。使用模拟数据和来自异构体插入物、人体组织和细胞系的实验数据,我们表明 RATTLE 可以准确地确定转录本序列及其丰度,并且随着转录本数量的增加具有良好的可扩展性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8565/9264490/888be591b28b/13059_2022_2715_Fig1_HTML.jpg

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