Skip to content

Functional Fine-Mapping

Definition
AI-generated

Functional fine-mapping incorporates functional genomic annotations—such as chromatin state, conservation, coding consequence, or supervised scores—into the prior odds or model that variants at a locus are causal.

Topics
Post-GWAS
Synonyms
Annotation-informed fine-mapping
Related
PAINTOR Chromatin Immunoprecipitation Sequencing (ChIP-seq) Credible Set

Why it matters in GWAS

At many loci all credible-set SNPs are noncoding; functional priors can sharpen posteriors and guide experimental follow-up (MPRA, CRISPR), while avoiding over-trust in imperfect annotations.

Example usage

"The methods explicitly include Functional Fine-Mapping in the end-to-end analysis workflow."

PAINTOR Chromatin Immunoprecipitation Sequencing (ChIP-seq) Credible Set Encyclopedia of DNA Elements (ENCODE) Fine-Mapping Roadmap Epigenomics SuSiE Variant Annotation
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

  • Kichaev G, et al. (2014). Integrating functional data to prioritize causal variants in statistical fine-mapping studies. PLoS Genet.
  • Weissbrod O, et al. (2020). Functionally informed fine-mapping and polygenic localization of complex trait heritability. Nat Genet.
  • Li Z, Zhou X. (2025). Towards improved fine-mapping of candidate causal variants. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00869-4
← Fixation index (FST) Functional mask →

Last updated (UTC · Git history)