Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Data source: evaluate polygenic priority score (PoPS) #237

Open
andrewsu opened this issue Sep 12, 2024 · 0 comments
Open

Data source: evaluate polygenic priority score (PoPS) #237

andrewsu opened this issue Sep 12, 2024 · 0 comments
Assignees
Labels
data source Data source pending to create a new API

Comments

@andrewsu
Copy link
Member

paper: https://www.nature.com/articles/s41588-023-01443-6
abstract:

Genome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci. Using a large evaluation set of genes with fine-mapped coding variants, we show that PoPS and the closest gene individually outperform other gene prioritization methods, but observe the best overall performance by combining PoPS with orthogonal methods. Using this combined approach, we prioritize 10,642 unique gene–trait pairs across 113 complex traits and diseases with high precision, finding not only well-established gene–trait relationships but nominating new genes at unresolved loci, such as LGR4 for estimated glomerular filtration rate and CCR7 for deep vein thrombosis. Overall, we demonstrate that PoPS provides a powerful addition to the gene prioritization toolbox.

Supplemental data table: https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-023-01443-6/MediaObjects/41588_2023_1443_MOESM3_ESM.xlsx

Supplemental Table 11 is titled "High confidence PoPS genes" and looks like it may be a reasonable source for linking genes to traits:

image

@andrewsu andrewsu added the data source Data source pending to create a new API label Sep 12, 2024
@ctrl-schaff ctrl-schaff self-assigned this Dec 6, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
data source Data source pending to create a new API
Projects
None yet
Development

No branches or pull requests

2 participants