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Annotation

Definition
AI-generated

Process of attaching structured labels to sequences or variants—coordinates, genes, consequences, regulatory tracks, and scores—so downstream tools can interpret raw genomics data.

Topics
Post-GWAS
Related
Genome Annotation Variant Annotation Functional Fine Mapping

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

"After fine-mapping, we performed variant annotation against Ensembl consequences and ATAC-seq peaks to prioritize candidate causal SNPs."

Genome Annotation Variant Annotation Functional Fine Mapping
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

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