Tag
Precision phenotyping using audiometric pure-tone averages enhances genetic variant detection for sensorineural hearing loss compared to diagnostic coding, offering improved heritability estimates and risk prediction to advance hearing heal
A genome-wide association study in Finnish and UK cohorts identifies XXYLT1 as a novel gene implicated in Mendelian inherited retinal dystrophy, expanding genetic understanding and clinical diagnostic tools for this blinding condition.
Genetic risk loci for idiopathic pulmonary fibrosis (IPF) identified in East Asian populations largely overlap with those found in Europeans, though allele frequencies and effect sizes differ, highlighting shared ancestry and disease mechan
A genome-wide study identified three genetic modifiers of autosomal dominant Alzheimer’s disease, linking them to disease risk, earlier onset, and biomarker changes involving amyloid, tau, TDP-43, and brain aging.
A large genome-wide analysis identifies multiple genetic loci influencing MPN subtypes and reveals a female-specific variant at CDH22/CD40, enhancing understanding of disease heterogeneity and potential for personalized risk stratification.
