Admixed populations constitute a large portion of global human genetic diversity, yet they are often left out of genomics analyses. This exclusion is problematic, as it leads to disparities in the understanding of the genetic structure and history of diverse cohorts and the performance of genomic medicine across populations. Admixed populations have particular statistical challenges, as they inherit genomic segments from multiple source populations-the primary reason they have historically been excluded from genetic studies. In recent years, however, an increasing number of statistical methods and software tools have been developed to account for and leverage admixture in the context of genomics analyses. Here, we provide a survey of such computational strategies for the informed consideration of admixture to allow for the well-calibrated inclusion of mixed ancestry populations in large-scale genomics studies, and we detail persisting gaps in existing tools.
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http://dx.doi.org/10.1146/annurev-biodatasci-020722-014310 | DOI Listing |
J Mol Diagn
January 2025
Clinical Research and Technological Development Division (Divisão de Pesquisa Clínica e Desenvolvimento Tecnológico), Brazilian National Cancer Institute (Instituto Nacional de Câncer), Rio de Janeiro, Brazil. Electronic address:
This article examines the frequency distribution of Tier 1 pharmacogenetic variants of the Association for Molecular Pathology Pharmacogenomics Working Group Recommendations in two large (>1.000 individuals) cohorts of the admixed Brazilian population, and in patients from the Brazilian Public Health System enrolled in pharmacogenetic trials. Three Tier 1 variants, all in DPYD, were consistently absent, which may justify their non-inclusion in genotyping panels for Brazilians; 13 variants had frequency < 1.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Instituto de Biologia, Universidade Federal da Bahia, Salvador 40170-115, Brazil.
Background/objectives: Internalizing disorders, including depression and anxiety, are major contributors to the global burden of disease. While the genetic architecture of these disorders in adults has been extensively studied, their early-life genetic mechanisms remain underexplored, especially in non-European populations. This study investigated the genetic mechanisms underlying internalizing symptoms in a cohort of Latin American children.
View Article and Find Full Text PDFAnimals (Basel)
January 2025
L. K. Ernst Federal Research Center for Animal Husbandry, Dubrovitsy, Podolsk 142132, Moscow Oblast, Russia.
Two species of wild sheep inhabit Iran: Asiatic mouflon () and urial (). Phylogenetic relationships between populations distributed in this country are complex and still remain unclear. This study aimed to clarify, by genetic assessment, the phylogenetic status of Kerman wild sheep, considered to be a hybrid of the two species.
View Article and Find Full Text PDFEvol Appl
January 2025
Organisms and Environment, School of Biosciences and Water Research Institute Cardiff University Wales UK.
Conservation efforts are leading to demographic growth and spatial expansion of some previously endangered species. However, past population bottlenecks or population size fluctuations can have lasting effects on effective population size ( ), even when census size ( ) appears large or recovered. The UK metapopulation of Eurasian otters () has a well-documented history of population recovery over recent decades, with indicators of presence (faeces and footprints) increasing in distribution and number over successive national surveys.
View Article and Find Full Text PDFUnlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).
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