Maria C. Costanzo

Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

Multi-ancestry proteome-phenome-wide Mendelian randomization offers a comprehensive protein-disease atlas and potential therapeutic targets

This study uses proteome-phenome-wide Mendelian randomization across three ancestries to identify protein-phenotype associations and potential therapeutic targets.

Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal

The paper introduces the T1D Knowledge Portal, a resource for querying genetic and functional data related to type 1 diabetes to aid in hypothesis generation and target discovery.

The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology

The paper introduces the Lipid Droplet Knowledge Portal, a resource integrating datasets on lipid droplet biology to uncover new determinants of lipid storage.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.