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OSBPL10, RXRA and lipid metabolism confer African-ancestry protection against d...

Sierra, B; Triska, P; Soares, P; Garcia, G; Perez, AB; Aguirre, E; Oliveira, M; Cavadas, B; Regnault, B; Alvarez, M; Ruiz, D; Samuels, DC

Ethnic groups can display differential genetic susceptibility to infectious diseases. The arthropod-born viral dengue disease is one such disease, with empirical and limited genetic evidence showing that African ancestry may be protective against the haemorrhagic phenotype. Global ancestry analysis based on high-throughput genotyping in admixed populations can be used to test this hypothesis, while admixture ma...


Genetic stratigraphy of key demographic events in Arabia

Fernandes, V; Triska, P; Pereira, JB; Alshamali, F; Rito, T; Machado, A; Fajkosova, Z; Cavadas, B; Cerny, V; Soares, P; Richards, MB; Pereira, L

At the crossroads between Africa and Eurasia, Arabia is necessarily a melting pot, its peoples enriched by successive gene flow over the generations. Estimating the timing and impact of these multiple migrations are important steps in reconstructing the key demographic events in the human history. However, current methods based on genome-wide information identify admixture events inefficiently, tending to estim...


Extensive admixture and selective pressure across the Sahel Belt

Triska, P; Soares, P; Patin, E; Fernandes, V; Cerny, V; Pereira, L

Genome-wide studies of African populations have the potential to reveal powerful insights into the evolution of our species, as these diverse populations have been exposed to intense selective pressures imposed by infectious diseases, diet, and environmental factors. Within Africa, the Sahel Belt extensively overlaps the geographical center of several endemic infections such as malaria, trypanosomiasis, meningi...


Global human frequencies of predicted nuclear pathogenic variants and the role ...

Pereira, L; Soares, P; Triska, P; Rito, T; Waerden, Avd; Li, B; Radivojac, P; Samuels, DC

Mitochondrial proteins are coded by nuclear (nDNA) and mitochondrial (mtDNA) genes, implying a complex cross-talk between the two genomes. Here we investigated the diversity displayed in 104 nuclear-coded mitochondrial proteins from 1,092 individuals from the 1000 Genomes dataset, in order to evaluate if these genes are under the effects of purifying selection and how that selection compares with their mitochon...


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