VCF mining & interpretation tools (hg38 build)
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4.1 years ago

i need recommendation for VCF mining & interpretation tools (hg38 build) like gemini but with hg38 support Kindly list any tools used in variant disease association and variant phenotype association or any tools of VCF statistics and analysis.

Regards elsayed

vcf annotation SNP clinvar mining • 1.4k views
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Hail seems great but i need standalone tool not based on Apache Spark any other recommendations ?

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To be clear, Hail doesn't require a cluster. And you can install it locally with Python 3 and pip install hail.

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4.1 years ago
pfs ▴ 280

Another option would be to use a tool like liftover to convert the VCF coordinates to hg19 coordinates and then using Gemini. Changing Genome Coordinates For Vcf

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