This skill should be used when the user asks to "build a genomics pipeline", "call variants", "analyze RNA-seq", "run ChIP-seq analysis", "annotate variants", "QC sequencing data", "detect CNVs", or when writing any bioinformatics pipeline code involving NGS data. Provides expert guidance on pipeline frameworks (Nextflow, Snakemake, WDL), alignment, variant calling, and production-ready nf-core workflows.
91
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Does it follow best practices?
Impact
78%
1.13xAverage score across 3 eval scenarios
Advisory
Suggest reviewing before use
RNA-seq pipeline with nf-core, DESeq2, QC
Nextflow framework
0%
0%
nf-core/rnaseq
0%
0%
STAR aligner specified
100%
100%
Salmon quantification
0%
87%
GRCh38 reference
100%
100%
Docker/Singularity profile
100%
87%
Samplesheet format
50%
100%
FASTQ naming convention
100%
100%
DESeq2 for DE analysis
100%
100%
tximport for Salmon import
0%
100%
LFC shrinkage applied
100%
100%
MultiQC mentioned
100%
100%
Germline calling, VEP annotation, rare disease filtering
DeepVariant for germline calling
0%
0%
VEP as primary annotator
100%
100%
Variant normalization before annotation
100%
100%
bgzip + tabix indexing
100%
100%
VEP functional prediction plugins
100%
100%
CRAM over BAM
0%
0%
gnomAD AF filter
62%
100%
IMPACT filter
100%
100%
PASS filter applied
100%
100%
Containerization mentioned
0%
100%
MultiQC or staged QC
75%
100%
Indexed output files
100%
100%
Somatic variants, Manta+GRIDSS SV calling, AnnotSV
Mutect2 for somatic SNVs
100%
100%
Manta for SV calling
100%
100%
GRIDSS for complex SVs
100%
100%
Multi-caller SV merging
100%
100%
AnnotSV for SV annotation
100%
100%
bgzip + tabix for VCF outputs
100%
100%
nf-core/sarek awareness
0%
0%
CRAM preference noted
0%
0%
Tumor/normal pair mode
100%
100%
SV size filter applied
100%
100%
Quality-based SV filtering
100%
100%
Containerization mentioned
0%
0%
4596913
Table of Contents
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