[landscape-gap] GWAS & Genetic Cell Type Enrichment: Cell-type enrichment results vary across methods; fine-mapping to causal cell types is inconclusive; rare variant cell-type effects are largely unexplored.

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Composite

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Market price

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Description

Mapping genetic disease risk (GWAS loci) to specific brain cell types using single-cell expression data. Includes MAGMA-cell, LDSC-SEG, and single-cell Mendelian randomization approaches for neuropsychiatric and neurodegenerative diseases. | Gap: Cell-type enrichment results vary across methods; fine-mapping to causal cell types is inconclusive; rare variant cell-type effects are largely unexplored.

Resolution criteria

Resolution requires: (1) Comparison of >=3 cell-type enrichment methods on >=10 neurodegenerative GWAS datasets; (2) Fine-mapping pipeline to <=5 causal variants per GWAS locus; (3) Rare variant burden test in >=5 cell types significant after Bonferroni correction; (4) KG edges linking GWAS loci to enriched cell types. Deliverable: method comparison + fine-mapped GWAS resource.

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