# Genetic and genomic insights of the Comcáac people

## TL;DR

This paper explores the genetic makeup of the Comcáac people, revealing unique traits and health predispositions shaped by historical events and genetic drift.

## Contribution

The study provides new genomic insights into the Comcáac population using modern sequencing technologies.

## Key findings

- The Comcáac show marked genetic differentiation due to a historical bottleneck and genetic drift.
- Genomic analyses reveal associations with traits like cirrhosis risk, metabolism, and immune responses.
- Whole-genome sequencing offers insights into the Comcáac's phenotypic and medical characteristics.

## Abstract

The Comcáac (also known as Seri) are an indigenous community from the central coast of the Sonoran Desert in Mexico. Genetic studies conducted on this population since the late 1990s have revealed marked genetic differentiation resulting from pronounced genetic drift caused by a historical bottleneck, which is consistent with anthropological and linguistic records. Research has examined allele frequencies and genetic variants associated with cirrhosis risk, pathogen adaptation, forensic markers, vitamin and sugar metabolism, body mass index, immune responses, cytochrome genes, genetic distances with other groups, and migration patterns. While early investigations relied on classical genetic approaches, more recent studies have employed omics technologies, including whole-genome sequencing. Analyses of the Comcáac genome provide valuable insights into the phenotypic traits and medical predispositions of this community.

The online version contains supplementary material available at 10.1007/s12687-025-00829-9.