Alberto García S, Mireia Costa, Alba García-Zarzoso, Oscar Pastor
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引用次数: 0
摘要
突变热点是基因变异频率异常高的 DNA 区域。确定一个变体是否位于突变热点,对于确定该变体在疾病易感性、发展和治疗反应中的作用至关重要。尽管突变热点非常重要,但目前有关突变热点的数据库仅限于肿瘤学领域。然而,对于遗传学起作用的任何疾病来说,识别突变热点都是至关重要的。对于世界头号死因--心脏疾病来说,情况也是如此。在这项工作中,我们介绍了 CardioHotspots,这是一个基于文献的、人工策划的心脏疾病热点数据库。据我们所知,这是唯一一个提供与心脏疾病相关热点的高质量且易于访问的数据库。CardioHotspots 可通过网络平台 (https://genomics-hub.pros.dsic.upv.es:3099/) 公开访问。数据库网址:https://genomics-hub.pros.dsic.upv.es:3099/。
CardioHotspots: a database of mutational hotspots for cardiac disorders.
Mutational hotspots are DNA regions with an abnormally high frequency of genetic variants. Identifying whether a variant is located in a mutational hotspot is critical for determining the variant's role in disorder predisposition, development, and treatment response. Despite their significance, current databases on mutational hotspots are limited to the oncology domain. However, identifying mutational hotspots is critical for any disorder in which genetics plays a role. This is true for the world's leading cause of death: cardiac disorders. In this work, we present CardioHotspots, a literature-based database of manually curated hotspots for cardiac diseases. This is the only database we know of that provides high-quality and easily accessible information about hotspots associated with cardiac disorders. CardioHotspots is publicly accessible via a web-based platform (https://genomics-hub.pros.dsic.upv.es:3099/). Database URL: https://genomics-hub.pros.dsic.upv.es:3099/.