Geny: Genotyping Tool for Allelic Decomposition of Killer-cell Immunoglobulin-Like Receptor Genes
Date
2023-09-28
Authors
Ghezelji, Mazyar
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Abstract
The accurate genotyping of Killer Immunoglobulin-like Receptors (KIR) plays a pivotal role in enhancing our comprehension of immune responses, disease correlations, and the advancement of personalized medicine. This thesis delves into the intricacies of KIR genotyping methodologies and introduces ”Geny,” an innovative computational tool formulated for precise allele-level genotyping. Through a comprehensive evaluation, Geny consistently demonstrates superior performance compared to existing tools, notably surpassing T1K, especially within crucial gene segments. The tool’s resilience in addressing both fundamental and advanced genotyping tasks highlights its robustness in the face of various challenges. The exceptional precision demonstrated by Geny in identifying critical genes positions it as a valuable resource for advancing the field of patient-centric medicine. By contributing to the evolution of KIR genotyping, this study not only establishes a new benchmark but also highlights the continuing requirement for innovative approaches. We emphasize Geny’s remarkable capabilities, recognizing the ever-evolving landscape of genomics. Furthermore, we outline potential future directions, encompassing the detection of gene fusions and the enhancement of mutation identification. These insights pave the way for KIR genotyping to play a pivotal role in shaping the landscape of modern medical research.
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Keywords
Genotyping, Integer Linear Programming, Expectation Maximization, Killer-cell Immunoglobulin-Like Receptor, KIR, Gene Variation