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泛基因组学简介。

A gentle introduction to pangenomics.

机构信息

School of Agriculture, Food and Wine, Waite Campus, University of Adelaide, Urrbrae, South Australia 5064, Australia.

Australian Genome Research Facility, Victorian Comprehensive Cancer Centre, Melbourne, Victoria 3000, Australia.

出版信息

Brief Bioinform. 2024 Sep 23;25(6). doi: 10.1093/bib/bbae588.

Abstract

Pangenomes have emerged in response to limitations associated with traditional linear reference genomes. In contrast to a traditional reference that is (usually) assembled from a single individual, pangenomes aim to represent all of the genomic variation found in a group of organisms. The term 'pangenome' is currently used to describe multiple different types of genomic information, and limited language is available to differentiate between them. This is frustrating for researchers working in the field and confusing for researchers new to the field. Here, we provide an introduction to pangenomics relevant to both prokaryotic and eukaryotic organisms and propose a formalization of the language used to describe pangenomes (see the Glossary) to improve the specificity of discussion in the field.

摘要

泛基因组是为了应对与传统线性参考基因组相关的局限性而出现的。与通常由单个个体组装而成的传统参考基因组不同,泛基因组旨在代表一组生物中发现的所有基因组变异。“泛基因组”一词目前用于描述多种不同类型的基因组信息,但可用的语言有限,无法区分它们。这对于在该领域工作的研究人员来说很令人沮丧,对于该领域的新研究人员来说也很困惑。在这里,我们提供了一个与原核生物和真核生物都相关的泛基因组学介绍,并提出了一种用于描述泛基因组的语言形式化(见词汇表),以提高该领域讨论的特异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0918/11570541/ff543c19e081/bbae588f1.jpg

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