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Pangenome

Definition
AI-generated

Graph or multi-reference representation of a species capturing structural and sequence variation beyond one linear reference—relevant as T2T and graph references enter alignment.

Why it matters in GWAS

Bioinformatics methods determine how variants, expression, and epigenetic state are measured and summarized—shaping GWAS covariates, multi-omic integration, and functional follow-up.

Example usage

"Downstream interpretation uses Pangenome to connect statistical signals with biological context."

References

  • Lesk AM. (2019). Introduction to Bioinformatics. Oxford University Press.

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