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FASTA

Definition
AI-generated

FASTA is a plain-text sequence format where each record starts with a header line beginning with `>` followed by one or more lines of nucleotide or amino-acid sequence.

Why it matters in GWAS

GWAS and post-GWAS pipelines rely on FASTA reference sequences for alignment, variant calling, annotation, and coordinate-consistent interpretation across tools.

Example usage

"Reads were aligned to the GRCh38 FASTA reference before variant calling and association analysis."

References

  • Pearson WR, Lipman DJ. (1988). Improved tools for biological sequence comparison. PNAS. https://doi.org/10.1073/pnas.85.8.2444

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