Analysis of CYP2C cluster gene variants in Omani and Ethiopian population samples using targeted long-read sequencing

Diplôme Master Analysis of CYP2C cluster gene variants in Omani and Ethiopian population samples using targeted long-read sequencing eng 2025-09-04 2025-09-01 author Weber Adriano 414356 director Poloni Estella S. 0000-0002-8465-003X 24418 Département de génétique et évolution (Genev) (BIANI) 48 Pharmacogenes play a central role in individual responses to drug treatments. They are involved in the absorption, distribution, metabolism, and excretion (ADME) processes of many drugs. Among them, the CYP2C cluster genes are responsible for the metabolism of approximately 20% of prescribed drugs. Mutations in these genes can lead to the emergence of new alleles, called variants, which can alter the therapeutic response. These variants occur at varying frequencies across populations, potentially inuencing the effectiveness of treatments at the population level. In this study, we used a third generation targeted sequencing approach (Twist Alliance + PacBio) to characterize the genetic diversity of the CYP2C cluster in two understudied populations: the Omani and Ethiopian populations. This work required the development of specific bioinformatics pipelines to process and analyze large volumes of data. Our results reveal an absence of obvious signatures of selection in these genes, as well as certain methodological limitations related to the technology used. We identied several rare variants that may de ne new functional alleles, as well as the presence of a haplotype combining CYP2C9*2 and CYP2C8*3, previously proposed as evidence of Neanderthal introgression. Bioinformatics Pharmacogenetics Dewey 590 44 Département de génétique et évolution 162 false 682 Laboratory of Anthropology, Genetics and Peopling history (AGP) 1247 Groupe Poloni 01a3b57d-567e-4687-9f5a-e829f71461e6 Master thesis Restricted rapport.pdf 8891109 application/pdf b3113d2da764af0178f648a0b6814affeaedf3b5b5e470716077435b6f14ac7f restrictedAccess Faculté des sciences / Section de biologie / Département de génétique et évolution

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Analysis of CYP2C cluster gene variants in Omani and Ethiopian population samples using targeted long-read sequencing				2025	41	6

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Weber, Adriano

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