作者
Jonas A Sibbesen, Jordan M Eizenga, Adam M Novak, Jouni Sirén, Xian Chang, Erik Garrison, Benedict Paten
发表日期
2023/2
期刊
Nature Methods
卷号
20
期号
2
页码范围
239-247
出版商
Nature Publishing Group US
简介
Pangenomics is emerging as a powerful computational paradigm in bioinformatics. This field uses population-level genome reference structures, typically consisting of a sequence graph, to mitigate reference bias and facilitate analyses that were challenging with previous reference-based methods. In this work, we extend these methods into transcriptomics to analyze sequencing data using the pantranscriptome: a population-level transcriptomic reference. Our toolchain, which consists of additions to the VG toolkit and a standalone tool, RPVG, can construct spliced pangenome graphs, map RNA sequencing data to these graphs, and perform haplotype-aware expression quantification of transcripts in a pantranscriptome. We show that this workflow improves accuracy over state-of-the-art RNA sequencing mapping methods, and that it can efficiently quantify haplotype-specific transcript expression without needing to …
引用总数
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JA Sibbesen, JM Eizenga, AM Novak, J Sirén, X Chang… - Nature Methods, 2023