Verónica Yumiceba

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

The paper characterizes the ancestral origin of CFTR mutations in Ecuadorian patients, finding high Native American ancestry with exceptions in three individuals with European ancestry.

The paper performs genomic, ancestral, and networking analysis on a high-altitude Ecuadorian CIPA patient, identifying NTRK1 mutations and associated variants.