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pysam - Genomic file toolkit for NGS data

Read and write genomic files including SAM/BAM/CRAM alignments, VCF/BCF variants, and FASTA/FASTQ sequences

Tags

Updated: 2026-06-15

Capabilities

Typical Inputs

Typical Outputs

What this skill does

  • read alignment files
  • read variant files
  • read sequence files
  • write alignment files
  • write variant files
  • write sequence files
  • extract genomic regions
  • query variant records
  • filter alignments
  • filter variants
  • calculate coverage
  • count reads
  • validate variants
  • annotate variants
  • create file indexes

Inputs

  • SAM/BAM/CRAM files
  • VCF/BCF files
  • FASTA/FASTQ files
  • genomic coordinates

Outputs

  • BAM/SAM/CRAM files
  • VCF/BCF files
  • FASTA/FASTQ files
  • coverage statistics
  • variant annotations
  • read counts

Requirements

  • Python environment
  • htslib library
  • file read/write permissions
  • BAM/CRAM index files (.bai/.crai)
  • FASTA index files (.fai)
  • VCF/BCF index files (.tbi/.csi)

Source

  • Spec: SKILL.md

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bioinformatics
genomics
NGS
sequence analysis
variant analysis
alignment
coverage
read alignment files
read variant files
read sequence files
write alignment files
SAM/BAM/CRAM files
VCF/BCF files
FASTA/FASTQ files
BAM/SAM/CRAM files
VCF/BCF files
FASTA/FASTQ files