Emiliano Sotelo-Fonseca

Emiliano Sotelo-Fonseca is a doctoral student at the Center for Genomic Regulation (CRG) in Barcelona, Spain, and a co-author of a recent study that explored the genetic variations within the human genome. His research focuses on the analysis of repetitive DNA segments, previously considered less significant, revealing their crucial role in human genetic diversity and disease. This work aims to improve genetic diagnosis of rare diseases by narrowing down the search for pathogenic variants.