Population differences in allele frequencies modify the clinical interpretation of genetic variants associated with rare diseases in Chilean patients

Research Square 2026 Preprint Open access

Read full text
Authors: Pablo Alarcón, Rosa Pardo Vargas, Patricia Castro-Santos, Guillermo Lay-Son R, María Leonor Bustamante, Marcelo Miranda, Paola M. Krall, Ignacia Fuentes, Roberto Díaz‐Peña, Ricardo A. Verdugo
DOI: 10.21203/rs.3.rs-8682805/v1
Cited by: 0
References: 32

Fields of Study & Subjects

Genomics and Rare Diseases Race Genetics and Society Genetic Associations and Epidemiology

Publication details

Journal / source
Research Square
Publication date
3 February 2026
Document type
Preprint