Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes
Alicia Huerta‐Chagoya, Philip H. Schroeder, Ravi Mandla, Jiang Li, Lowri Morris, Maheak Vora, Ahmed N. Alkanaq, Dorka Nagy, Łukasz Szczerbiński, Jesper Grud Skat Madsen, Sílvia Bonàs‐Guarch, Fanny Mollandin, Joanne B. Cole, Bianca Porneala, Kenneth E. Westerman, , Josep Maria Mercader
The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.
Nature Genetics · Oct 8, 2024Peer-reviewedGenetic & Genomic Medicine