Article
CardioHotspots: a database of mutational hotspots for cardiac disorders.
Database : the journal of biological databases and curation - 15 May 2024
García S Alberto, Costa Mireia, García-Zarzoso Alba, Pastor Oscar
Abstract excerpt
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...
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