VCF Desk - your variant call file, triaged, interpreted and cleared for the cohort
Paste a VCF (Variant Call Format) file and get a variant-calling engineer review in three lanes over the same file. Triage returns a release/filter/recall verdict, a fifteen-check table, prioritized findings and an ordered bcftools filter plan. Interpret groups the variants by the genes the file itself annotates, ranks a shortlist grounded only in the file own fields, and writes the gget database queries for every claim it refuses to invent. Cohort answers whether the callset can be loaded into a population-scale variant store: reference build, contig naming, sort order, sample collisions, the attribute schema the header can support, and the ordered ingest commands. A free in-browser VCF reader runs first: it parses every meta line into its structured form, validates each record against the header declared Number and Type, pins the reference build from declared contig lengths, detects the caller, and computes Ti/Tv, missingness, het/hom ratio and depth. Derived from three agent skills: @k-dense-ai/pysam (VCF/BCF header and record semantics), @k-dense-ai/gget (bioinformatics database queries) and @k-dense-ai/tiledbvcf (population-scale variant storage). Not a clinical or diagnostic tool.
Details
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