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Results for “gnomad”

6 skills
gabrielmoreira
Vcf Annotator
Annotates VCF variants using Ensembl VEP, ClinVar, and gnomAD, ranks them by predicted impact, and generates a reproducible report.
17 · bundle
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k-dense-ai
Onekgpd
Query the 1000 Genomes Project dataset at the individual participant level to find variants, carriers, and relatedness information.
30.2k · bundle
k-dense-ai
Pacsomatic
Validates inputs, generates samplesheets and launch scripts, and optionally executes nf-core/pacsomatic matched tumor-normal workflows from BAM files, supporting local runs and scheduler submission (LSF/Slurm/PBS/SGE).
30.2k · bundle
demerzels-lab
Gno
Index local folders and search documents with BM25, vector, or hybrid queries, plus AI answers with citations and a web UI.
10 · bundle
johnalbertini14-glitch
Gno
Index local folders and search documents with BM25, vector, or hybrid queries, plus AI answers with citations and a web UI.
1 · bundle
lingxling
Onekgpd
Queries the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants, returning variants, carriers, and relatedness with allele frequencies and annotations.
253 · bundle