Evaiutilities, Evaifilter, Evaiweb and Evaidesktop: Genomic Utilities for Genomic Single- and Cohort-Scale eVai Analysis
Year: 2026
Type: article
Abstract: 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.
Source: Biophysica
Author: Gaurav Sablok
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,207
OpenAlex ID: W7212309752