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The comprehensive annotation of human genomic variants is crucial for the biological interpretation and association of these variants with disease phenotypes. Various tools have been developed to annotate variants utilizing established reference databases. In addition to significant advancements in open-source genomics, parallel initiatives have been undertaken within the industry to facilitate variant identification and annotation. eVaiutilities enhances these capabilities by offering a scalable solution for population-level analysis through command line as a web interface.
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Gaurav Sablok (2026) studied this question.
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