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人类和动物物种短基因变异数据库的比较综述。

A comparative review of short genetic variant databases across humans and animal species.

作者信息

Van Buren Samantha L, Brown C Titus, Szmatoła Tomasz, Finno Carrie J

机构信息

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, One Shields Ave Davis, CA 95616, United States.

Center for Experimental and Innovative Medicine, University of Agriculture in Krakow, Rędzina 1c, 30-248 Kraków, Poland.

出版信息

Brief Bioinform. 2025 Jul 2;26(4). doi: 10.1093/bib/bbaf356.

Abstract

Understanding genetic variation is necessary to unravel the complexities of evolution and diverse traits across species. Short genetic variants (<50 bp in length) represent key genomic variations that play a crucial role in shaping the genetic landscape of populations. Human short genetic variant databases are often considered the gold standard for variant repositories, and this review compares them with variant databases created for various animal species. This review examines the methodologies, data integration, and various applications that differ or align between human and animal databases. The goal is to identify challenges in leveraging genetic variation across species, recommend strategies for overcoming these challenges, and suggest future directions for research and database development.

摘要

了解遗传变异对于揭示物种进化的复杂性和多样性状至关重要。短遗传变异(长度<50 bp)代表了关键的基因组变异,在塑造种群的遗传格局中起着至关重要的作用。人类短遗传变异数据库通常被视为变异库的黄金标准,本综述将它们与为各种动物物种创建的变异数据库进行比较。本综述研究了人类和动物数据库之间不同或一致的方法、数据整合及各种应用。目的是识别跨物种利用遗传变异的挑战,推荐克服这些挑战的策略,并为研究和数据库开发提出未来方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/edb4/12309242/c00a0e0d670b/bbaf356f1.jpg

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