PROS Research Center, VRAIN, Polytechnic University of Valencia, Camino de Vera S/N, Valencia 46022, Spain.
Database (Oxford). 2024 May 15;2024:0. doi: 10.1093/database/baae034.
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/.
突变热点是指 DNA 区域中遗传变异的异常高发频率。确定一个变体是否位于突变热点中，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。尽管它们很重要，但目前关于突变热点的数据库仅限于肿瘤学领域。然而，对于任何遗传因素起作用的疾病，确定突变热点都是至关重要的。这对于世界上主要的死亡原因：心脏疾病来说也是如此。在这项工作中，我们提出了 CardioHotspots，这是一个基于文献的心脏疾病突变热点的人工 curated 数据库。这是我们所知的唯一一个提供与心脏疾病相关的热点的高质量和易于访问的信息的数据库。CardioHotspots 通过基于网络的平台（https://genomics-hub.pros.dsic.upv.es:3099/）公开提供。数据库网址：https://genomics-hub.pros.dsic.upv.es:3099/。
