Long-read sequencing reveals two common APOE ϵ3 and ϵ4 intragenic haplotypes in the Spanish population
Pablo García‐González, Raquel Puerta, Álvaro Muñoz-Morales, Clàudia Olivé, Berta Calm, Laura Montrreal, Alejandro Valenzuela, Paula Bayón-Buján, Marta Rovira, Maria Capdevila-Bayo, Marta Marquié, Sergi Valero, Maitee Rosende-Roca, Montserrat Alegret, Adrián Hinojosa, , Agustı́n Ruiz
The paper uses long-read sequencing to identify and characterize APOE haplotypes in a Spanish cohort, finding associations between specific haplotypes and reduced risk of Alzheimer's disease progression.
medRxiv · Mar 25, 2025 · PreprintGenetic & Genomic Medicine