SNP Calling Pipeline
Pipeline Architecture
Raw FASTQ reads
→ Trimmomatic (TRAILING:20, MINLEN:50)
→ HISAT2/BWA-MEM2 (alignment)
→ samtools (SAM→BAM→sort→index→depth)
→ samtools mpileup → bcftools call -cv (raw VCF)
→ ANNOVAR (annotation: dbSNP138, refGene, 1000G, GWAS, ClinVar)
→ Final annotated report
Tool Reference
| Tool | Version | Purpose |
|---|---|---|
| Trimmomatic | 0.36 | Read quality trimming |
| HISAT2 | 2.1.0 | Read alignmen |
[Description truncada. Veja o README completo no GitHub.]