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variant-annotation

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berntpopp / variant-linker

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🧬 Powerful CLI tool and JavaScript library for genetic variant annotation using Ensembl APIs. Supports SNVs, CNVs, VCF files, inheritance analysis, batch processing, and genome assembly liftover.

nodejs bioinformatics genomics genetics computational-biology liftover vcf javascript-library ensembl snp variant-calling batch-processing vep cnv genome-assembly genetic-variants variant-annotation cli-tool medical-genetics inheritance-analysis
  • Updated Sep 3, 2025
  • JavaScript

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