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Bioinformatics

Definition
AI-generated

Bioinformatics develops algorithms, software, and databases to store, align, annotate, and interpret large-scale biological sequence and omics data.

Why it matters in GWAS

GWAS pipelines—from genotype calling and imputation through association testing, fine-mapping, and annotation—are implemented as reproducible bioinformatics workflows on reference genomes and standardized formats (e.g. VCF, BGEN).

Example usage

"The project relied on bioinformatics pipelines for read alignment, variant calling, annotation, and downstream QC dashboards."

References

  • Greene D, et al. (2024). A practical introduction to GWAS. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-024-00300-5

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