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haplotype
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Comparative Analysis of Haplotype Assembly Algorithms to Identify and Propose Optimal Methods
, M.Sc. Thesis Sharif University of Technology ; Jahed, Mehran (Supervisor) ; Hossein Khalaj, Babak (Supervisor)
Abstract
Humans, as a diploid species, have two nucleotide sequences of homologous chromosomes in their genomes, where one set is inherited from the mother, and the other comes from the father. The Single Individual Haplotype assembly problem (SIH) refers to the reconstruction of these two distinct nucleotide sequences of a chromosome from the sequencing reads, and it is currently considered one of the most important issues in the field of computational genomics, which plays an essential role in solving various genetic and medical problems.Nowadays direct experimental methods are not welcomed due to their high cost, and labor intensity, and are limited to certain regions of the genome, therefore,...
Panel Construction and Haplotype Phasing of Iranian Genomes using Multimodal Genomics Data
, M.Sc. Thesis Sharif University of Technology ; Motahari, Abolfazl (Supervisor)
Abstract
In recent decades, genetics has become one of the key pillars in medical and scientific research, and haplotype analysis plays a crucial role in understanding the genetic structure of populations. Haplotypes are specific combinations of alleles at different loci in the genome that are inherited together and provide valuable information about genetic history and intra-population diversity. One of the challenges in this field is the mismatch between the existing reference panels and the genetic characteristics of the Iranian population, as many of these panels have been developed based on data from non-Iranian populations. This mismatch can lead to incorrect results in genetic analyses. In...