alterlab-nf-core-sarek
SolidRuns FASTQ-to-VCF germline and somatic variant calling via the Nextflow nf-core/sarek pipeline pinned to -r 3.8.1 — builds the samplesheet.csv (patient, sex, status, sample, lane, fastq_1, fastq_2), runs bwa-mem/bwa-mem2/dragmap alignment plus GATK4 MarkDuplicates and BQSR against the GATK GRCh38 resource bundle (dbSNP, Mills/1000G indels), and selects callers — explicitly correcting that sarek defaults to Strelka when --tools is unset (pass haplotypecaller for GATK best practice or deepvariant for CNN accuracy), with a non-Nextflow manual GATK4 fallback. Use when the user wants a variant-calling pipeline, FASTQ to VCF, germline or somatic SNV/indel calling, nf-core/sarek, GATK best-practices alignment-to-VCF, or BQSR/HaplotypeCaller/Mutect2/DeepVariant; annotate hits with alterlab-clinvar/alterlab-gnomad/alterlab-cosmic, parse VCFs with alterlab-pysam, store at scale with alterlab-tiledbvcf. Part of the AlterLab Academic Skills suite.
Install
Quality Score: 87/100
Skill Content
Details
- Author
- AlterLab-IEU
- Repository
- AlterLab-IEU/AlterLab-Academic-Skills
- Created
- 2 months ago
- Last Updated
- today
- Language
- Python
- License
- MIT
Integrates with
Similar Skills
Semantically similar based on skill content — not just same category
alterlab-qiime2-amplicon
Runs 16S/ITS amplicon (microbiome) analysis with the QIIME 2 amplicon distribution (2026.1; renamed to "qiime2" in 2026.4) in the correct order: manifest import, cutadapt trim-paired primer removal BEFORE dada2 denoise-paired (trunc-len chosen from the demux quality .qzv), feature-classifier classify-sklearn against a version-matched SILVA 138 or Greengenes2 classifier, and diversity core-metrics-phylogenetic — teaching the .qza/.qzv artifact-and-provenance model and the 2026.1 feature-table summarize change (the former summarize_plus). Use when the request mentions QIIME2, QIIME 2, qiime, 16S, 18S, ITS, amplicon, microbiome, ASV, DADA2 denoising, feature table, taxonomic classification, or core-metrics diversity. For downstream alpha/beta diversity, PCoA, and PERMANOVA on the exported feature table prefer alterlab-scikit-bio; this is conda-only (no pip install). Part of the AlterLab Academic Skills suite.
gatk-variant-caller
GATK best practices skill for germline and somatic variant calling with joint genotyping
nextflow-development
Run nf-core bioinformatics pipelines (rnaseq, sarek, atacseq) on sequencing data. Use when analyzing RNA-seq, WGS/WES, or ATAC-seq data—either local FASTQs or public datasets from GEO/SRA. Triggers on nf-core, Nextflow, FASTQ analysis, variant calling, gene expression, differential expression, GEO reanalysis, GSE/GSM/SRR accessions, or samplesheet creation.