Biological Sciences

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https://hdl.handle.net/10323/11883

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Browsing Biological Sciences by Author "Battistuzzi, Fabia"

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    Leveraging Big Data for Bioinformatic Analysis in Modern Population Genomics
    (2023-01-01) Wolfsberger, Walter; Oleksyk, Taras K; Battistuzzi, Fabia; Westrick, Randal
    The technological advancements and the cost reduction of genomic sequencing provide novel capabilities to pose and answer biological questions on a grand scale. The initial efforts of establishing genomic references for many species of the globe serve as a foundation for the projects that aim to analyze the populations of said species. This expansion of the number of samples involved in individual studies is often connected with increased infrastructural costs for data storage and analysis. Population genomics methods are expanding on the existing genetic approaches, leveraging our ability to automate big data processing and introducing comparative methods to our collection of scientific instruments. It has extensive applications in animal and wildlife research, conservation, and human population analyses. These unique opportunities are associated with emerging challenges related to the nature of the approaches and their relative novelty in the field. Analysis of a multitude of individuals often increases requirements in terms of bioinformatics expertise and resources. An increase in complexity and data volume means researchers often need access to high-performance computing facilities and specific training to utilize them. The field still grows, with new instruments or tests frequently introduced and outdated approaches depreciating. This work reviews population genomics methods and their application related to wildlife research, conservation, and human populations research, employs them to provide answers in multiple studies, and presents a newly developed analysis suite. The suite is aimed to facilitate reproducible, accessible population genomic testing across various fields of application, seeking to address the growing expertise challenges in the field.
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    Medically Relevant Genome Diversity in Ukraine
    (2023-01-01) Shchubelka, Khrystyna; Oleksyk, Taras K; Battistuzzi, Fabia; Raffel, Thomas
    Ukraine, the second-largest country in Europe, has a rich history characterized by migrations, epidemics, famines, wars, and occupations, all of which have contributed to the formation of the modern Ukrainian population. However, the genetic composition of Ukraine remains understudied. Previous population genetic studies have largely overlooked the unique genetic makeup of Ukraine due to lack of publicly available genomic data. Yet, recent global assessments of genome diversity have highlighted the presence of numerous endemic variants, underscoring the significance of investigating genetic variation in underrepresented regions like Eastern Europe and, specifically, Ukraine. Such research is vital in the context of worldwide clinical trials and the development of personalized medicine. Local populations, shaped by their distinct histories, harbor a wealth of unexplored genomic variation, which may impact drug response, influence the risk of common and rare diseases, and shape lifestyle adaptations.Comprehensively understanding the genetic makeup of specific populations facilitates more effective identification of genetic markers for disease gene mapping, including family linkage and genome-wide association studies. These investigations aim to uncover susceptibility genes or loci for both Mendelian and complex diseases. Therefore, in this discovery-based study, our objective is to characterize the extensive genetic variation of medically relevant alleles in contemporary Ukraine across various levels of population structure: within major regions of Ukraine, and among the multiethnic population of Transcarpathia. Additionally, we will explore the relationship between lactose persistence genotypes and phenotypes, as well as the genetic factors underlying global developmental delay and intellectual disability in Ukraine.