Review
Open access
Sep 2026
Isonymy and inbreeding in Boyacá, Colombia: Implications for rare disease risk
The frequency of rare and orphan genetic diseases is high in some populations in the Colombian department of Boyacá. This is arguably associated with the elevated consanguinity in the region, which can increase autozygosity and the expression of recessive conditions. Surname sharing (Isonymy) analysis is useful for eva...
William Usaquen Martinez, Yury Milena Aponte Rubio, María Alejandra Coronel Guzmán et al.
· Universitas Scientiarum · 0 citations