cyberneticlibrary

Process genomic sequencing data

pysamskillsetup L227,559
K-Dense-AI/scientific-agent-skills
What it does

Read, query, and analyze genomic alignment and variant files

Best for

When you need to integrate BAM, VCF, and FASTA data in a bioinformatics pipeline.

Inputs
  • · BAM/SAM/CRAM alignment files
  • · VCF/BCF variant files
  • · FASTA/FASTQ sequences
Outputs
  • · AlignedSegment / VariantRecord / sequence objects
  • · coverage statistics
  • · filtered reads/variants
Requires
  • · Python
  • · pysam
  • · htslib
Preconditions
  • · input files in standard genomic format
  • · optional: tabix index for region queries
Failure modes
  • · coordinate system confusion (0-based vs 1-based)
  • · trying to fetch from non-indexed file
Trust signals
  • · handles multiple file formats
  • · pileup analysis for coverage
  • · Pythonic interface to samtools/bcftools