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Binary Alignment/Map (BAM)

Definition
AI-generated

BAM is the compressed binary representation of SAM records for aligned sequencing reads, designed for efficient storage, indexing, and random access.

Why it matters in GWAS

In sequencing-based GWAS pipelines, BAM files are a core intermediate that feed variant calling and quality assessment; alignment quality directly influences downstream association validity.

Example usage

"Aligned BAM files were indexed and passed to the joint variant-calling workflow."

References

  • Li H, et al. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics. https://doi.org/10.1093/bioinformatics/btp352

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