Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

doi:10.1002/ajmg.a.70185

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Article

Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

American journal of medical genetics. Part A - 1 Oct 2026

Porras-Hurtado Gloria Liliana, Mejía-García Alejandro, Sinisterra-Diaz Stiven Ernesto, Velandia-Piedrahita Camilo Andres, Geles José, Pachajoa Harry, Bello Sandra, Gálvez Jubby Marcela

Abstract excerpt

Colombia is one of the most genetically diverse populations in Latin America, and its demographic process has promoted the persistence and local enrichment of deleterious alleles, increasing the frequency of autosomal recessive disorders, particularly in semi-isolated Andean populations such as the Eje Cafetero. However, exome-based reference data from this region remain scarce, limiting ancestry-aware variant...

Read the complete abstract on PubMed

Topics

Female
Humans
Male
Colombia
Cross-Sectional Studies
Exome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Founder Effect

Gene Frequency

Genes, Recessive

Genetics, Population

Heterozygote

Mutation

White People

American Indian or Alaska Native

Source

Open in PubMed

Identifiers

PMID: 42071326
DOI: 10.1002/ajmg.a.70185

Genes

CFTR
PYGM
SERPINA1

Variants

Provenance

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