bioinformatics-fundamentals
Bioinformatics Fundamentals
Foundation knowledge for genomics and bioinformatics workflows. Provides essential understanding of file formats, sequencing technologies, and common data processing patterns.
When to Use This Skill
- Working with sequencing data (PacBio HiFi, Hi-C, Illumina)
- Debugging SAM/BAM alignment or filtering issues
- Processing AGP files for genome assembly curation
- Validating AGP coordinate systems and unloc assignments
- Understanding paired-end vs single-end data
- Interpreting quality metrics (MAPQ, PHRED scores)
- Troubleshooting empty outputs or broken read pairs
- Accessing GenomeArk QC data (GenomeScope, BUSCO, Merqury)
- Curating karyotype data or chromosome count analysis
- General bioinformatics data analysis
SAM/BAM Format Essentials
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