在银河系进行可扩展,可访问和可复制的参考基因组组装和评估
Delphine Larivière1, Linelle Abueg2, Nadolina Brajuka2
1Dept. of Biochemistry and Molecular Biology, Pennsylvania State University, USA.
bioRxiv : the preprint server for biology
|July 10, 2023
概括
脊椎动物基因组项目开发了一个可扩展,可复制的基因组组装管道. 这种新方法采用长读测序和高级分相,为各种脊椎动物物种创建高质量的参考基因组.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 进行比较基因组学.
背景情况:
- 高质量的参考基因组对于生物研究至关重要.
- 目前的基因组组装方法往往是劳动密集型,缺乏标准化,并且难以扩展.
研究的目的:
- 为脊椎动物物种展示和验证一个新的,可扩展的基因组组装管道.
- 提高高质量的基因组组装的可复制性和可访问性.
主要方法:
- 一个新的基于图形的组装范式,结合了PacBio HiFi长读和Hi-C基于哈普洛型分阶段.
- 自动化,标准化质量控制用于故障排除和评估生物复杂性.
- 管道可访问性通过银河平台用于更广泛的研究人员使用.
主要成果:
- 成功组装了51种不同的脊椎动物物种的高质量参考基因组.
- 在主要分类群体 (鱼类,两动物,爬行动物,鸟类,哺乳动物) 中展示管道可扩展性和可靠性.
- 提高基因组组装过程的可复制性和可访问性.
结论:
- 提出的管道提供了一个多功能,可扩展和可重复的解决方案,用于生成高质量的脊椎动物参考基因组.
- 通过可访问的工具和标准化的流程来实现基因组组装的民主化.
- 在为进化和生物多样性研究产生大规模基因组资源的能力方面取得了重大进展.
更多相关视频
08:34MS2-Affinity Purification Coupled with RNA Sequencing in Gram-Positive Bacteria
Published on: February 23, 2021
6.8K
09:52A Clinical Metaproteomics Workflow Implemented within Galaxy Bioinformatics Platform to Analyze Host-Microbiome Interactions Underlying Human Disease
Published on: January 10, 2025
656
相关概念视频
03:36Genome Annotation and Assembly
18.9K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
18.9K
02:54Evolutionary Relationships through Genome Comparisons
5.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.8K