Master
English

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

ContributorsWeber, Adriano
Number of pages48
Handover date2025-09-01
Defense date2025-09-04
Abstract

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.

Keywords
  • Bioinformatics
  • Pharmacogenetics
Citation (ISO format)
WEBER, Adriano. Analysis of CYP2C cluster gene variants in Omani and Ethiopian population samples using targeted long-read sequencing. Master, 2025.
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Master thesis
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Identifiers
  • PID : unige:187845
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Creation26/08/2025 13:09:20
First validation24/09/2025 12:52:16
Update29/09/2025 06:53:34
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