myVariant

myVariant is a web-based tool designed for the annotation and interpretation of genetic variants. It aims to facilitate the understanding of variants found in human DNA, particularly in the context of clinical diagnostics and research. The platform integrates data from multiple public and proprietary databases to provide a comprehensive view of a given variant's potential significance.

Users can submit genetic variants, typically in standard formats like VCF, to myVariant for analysis. The tool then queries a curated collection of resources, including reputable scientific literature, variant databases such as dbSNP, ClinVar, and COSMIC, as well as functional prediction tools. The output provides a summary of known information about the variant, including its frequency in different populations, associations with diseases, and predicted effects on protein function.

The primary goal of myVariant is to streamline the variant interpretation process for geneticists, researchers, and clinicians. By centralizing information from diverse sources, it reduces the time and effort required to assess the clinical relevance of identified genetic variations. This can be crucial in diagnosing rare genetic disorders and in advancing genomic research. The platform is continuously updated to reflect the latest scientific findings and database entries.