CardioHotspots: a database of mutational hotspots for cardiac disorders
Alberto García S, Mireia Costa, Alba García-Zarzoso, Oscar Pastor
TL;DR
CardioHotspots is a new database that identifies genetic hotspots linked to heart diseases, helping researchers and clinicians understand and treat these conditions better.
Contribution
The first manually curated database of mutational hotspots specifically for cardiac disorders.
Findings
CardioHotspots provides high-quality, manually curated mutational hotspots for cardiac diseases.
The database is publicly accessible through a user-friendly web-based platform.
It fills a critical gap in the availability of hotspot data outside the oncology domain.
Abstract
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 (…
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsGenomics and Rare Diseases · Cancer Genomics and Diagnostics · Genomics and Phylogenetic Studies