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Sequencing and assembling bear genomes: the bare necessities
Frontiers in Zoology ( IF 2.8 ) Pub Date : 2022-11-30 , DOI: 10.1186/s12983-022-00475-8
Courtney Willey 1 , Ron Korstanje 1
Affiliation  

Unique genetic adaptations are present in bears of every species across the world. From (nearly) shutting down important organs during hibernation to preventing harm from lifestyles that could easily cause metabolic diseases in humans, bears may hold the answer to various human ailments. However, only a few of these unique traits are currently being investigated at the molecular level, partly because of the lack of necessary tools. One of these tools is well-annotated genome assemblies from the different, extant bear species. These reference genomes are needed to allow us to identify differences in genetic variants, isoforms, gene expression, and genomic features such as transposons and identify those that are associated with biomedical-relevant traits. In this review we assess the current state of the genome assemblies of the eight different bear species, discuss current gaps, and the future benefits these reference genomes may have in informing human biomedical applications, while at the same time improving bear conservation efforts.

中文翻译:

熊基因组测序和组装:最基本的必需品

世界上每个物种的熊都有独特的遗传适应性。从(几乎)在冬眠期间关闭重要器官到防止可能容易导致人类代谢疾病的生活方式造成的伤害,熊可能是人类各种疾病的答案。然而,目前只有少数这些独特性状在分子水平上得到研究,部分原因是缺乏必要的工具。这些工具之一是来自不同现存熊种的经过良好注释的基因组组装。我们需要这些参考基因组来识别遗传变异、异构体、基因表达和基因组特征(如转座子)的差异,并识别那些与生物医学相关性状相关的特征。
更新日期:2022-11-30
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