alterlab-nf-core-sarek

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Runs 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.

AI & Automation 66 stars 13 forks Updated 1 weeks ago MIT

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Skill Content

# nf-core/sarek — FASTQ-to-VCF Variant Calling The workflow-runner entry point for raw-reads-to-variants: drive the **Nextflow [nf-core/sarek](https://nf-co.re/sarek/3.8.1/) pipeline (pinned `-r 3.8.1`)** to take germline or somatic short-read FASTQ through alignment, GATK4 duplicate marking and base-quality recalibration, and SNV/indel calling, then hand the resulting VCFs to the suite's database and parsing skills for interpretation. This skill is the **command-line / workflow** counterpart to the suite's Python-library bioinformatics skills. Use it for the *raw-data-to-VCF* leg; use the library skills (`alterlab-pysam`, `alterlab-tiledbvcf`) once you hold a VCF. ## When to Use This Skill Trigger this skill when the user wants to: - Go from **FASTQ to VCF** — call variants on whole-genome (WGS) or whole-exome (WES) short reads. - Run **germline** SNV/indel calling (one or many normal samples). - Run **somatic / tumor-normal** calling (matched tumor + normal, or tumor-only). - Use **nf-core/sarek** specifically, or want a reproducible "GATK best-practices alignment-to-VCF" pipeline without hand-writing every step. - Resume a run from an intermediate **`--step`** (already have BAM/CRAM, only need recalibration or variant calling). ### Does NOT Trigger — route adjacent requests here | The request is really about… | Route to | |---|---| | Parsing / filtering / reading an **existing** VCF/BAM in Python (pysam/htslib) | `alterlab-pysam` | | **Storing / querying** lar...

Details

Author
AlterLab-IEU
Repository
AlterLab-IEU/AlterLab-Academic-Skills
Created
5 months ago
Last Updated
1 weeks ago
Language
Python
License
MIT

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