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single-nucleotide-polymorphism--snp
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Identification of the Set of Single Nucleotide Variants in Genome Responsible for the Differentiation of Expression of Genes
, M.Sc. Thesis Sharif University of Technology ; Rabiee, Hamid Reza (Supervisor) ; Beigi, Hamid (Supervisor)
Abstract
Single nucleotide polymorphs, There are changes caused by a mutation in a nucleotide in the Dena sequence. Mononucleotide polymorphisms are the most common type of genetic variation. Some of these changes have little or no effect on cells, while others cause significant changes in the expression of cell genes that can lead to disease or resistance to certain diseases. Because of the importance of these changes and their effect on cell function, the relationships between these changes are also important. Over the past decade, thousands of single disease-related mononucleotide polymorphisms have been identified in genome-related studies. Studies in this field have shown that the expression of...
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,...
Solving MEC and MEC/GI problem models, using information fusion and multiple classifiers
, Article Innovations'07: 4th International Conference on Innovations in Information Technology, IIT, Dubai, 18 November 2007 through 20 November 2007 ; 2007 , Pages 397-401 ; 9781424418411 (ISBN) ; Moeinzadeh, M. H ; Mohammadzadeht, J ; Ghazinezhad, A ; Habibi, J ; Najafi Ardabili, A ; Sharif University of Technology
IEEE Computer Society
2007
Abstract
Mutations in Single Nucleotide Polymorphisms (SNPs - different variant positions (1%) from human genomes) are responsible for some genetic diseases. As a consequence, obtaining all SNPs from human populations is one of the primary goals of recent studies in human genomics. Two sequences of mentioned SNPs in diploid human organisms are called haplotypes. In this paper, we study haplotype reconstruction from SNP-fragments with and without genotype information, problems. Designing serial and parallel classifiers was center of our research. Genetic algorithm and K-means were two components of our approaches. This combination helps us to cover the single classifier's weaknesses. ©2008 IEEE
Colorimetric assay for exon 7 SMN1/SMN2 single nucleotide polymorphism using gold nanoprobes
, Article BioImpacts ; Volume 3, Issue 4 , 2013 , Pages 185-194 ; 22285652 (ISSN) ; Hormozi Nezhad, M. R ; Abadi, A ; Sanati, M. H ; Kazemi, B ; Sharif University of Technology
2013
Abstract
Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucleotide difference in SMN2 compared to SMN1 gene leads to an inefficient protein. Hence, homozygous lack of SMN1 provides a progressive disease. Due to the high prevalence, up to now, several molecular diagnostic methods have been used which most of them are lengthy, expensive, and laborious. Methods: In the present study, we exploited a gold nanoprobe-based method for semi-quantitative SMN1 gene dosage analysis compared to SMN2. The assay was...