Christine Kim Garcia

Polygenic risk scores enhance the identification of carriers of monogenic forms of idiopathic pulmonary fibrosis

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

Polygenic Risk and Rare Variants in Endotypes of Idiopathic Pulmonary Fibrosis

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

Rare variants and survival of patients with idiopathic pulmonary fibrosis

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.