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    Detecting Large-scale Evolutionary Events and Multiple Alignment of Whole Genomes

    , M.Sc. Thesis Sharif University of Technology Afshinfard, Amir Hossein (Author) ; Motahari, Abolfazl (Supervisor) ; Rabiee, Hamid Reza (Co-Advisor)
    Abstract
    Recent advances in genome sequencing technologies have provided a wide variety of completely sequenced genomes. This opened up the opportunity to study genomic sequences, using pairwise or multiple alignment of the whole-genomes. The aim is to explore the similarities and differences between genomes for further comparative studies. This task is challenging because genomes of different species have undergone not only small mutations but also many large-scale evolutionary events such as insertion, deletion and inversion.There has been a lot of research on developing whole-genome alignment algorithms. Having an optimal trade-off between sensitivity, accuracy and computational expense are very... 

    Optical pattern generator for efficient bio-data encoding in a photonic sequence comparison architecture

    , Article PLoS ONE ; Volume 16, Issue 1 January 2021 , 2021 ; 19326203 (ISSN) Akbari Rokn Abadi, S ; Dijujin, N. H ; Koohi, S ; Sharif University of Technology
    Public Library of Science  2021
    Abstract
    In this study, optical technology is considered as SA issues’ solution with the potential ability to increase the speed, overcome memory-limitation, reduce power consumption, and increase output accuracy. So we examine the effect of bio-data encoding and the creation of input images on the pattern-recognition error-rate at the output of optical Vander-lugt correlator. Moreover, we present a genetic algorithm-based coding approach, named as GAC, to minimize output noises of cross-correlating data. As a case study, we adopt the proposed coding approach within a correlation-based optical architecture for counting k-mers in a DNA string. As verified by the simulations on Salmonella whole-genome,... 

    Optical pattern generator for efficient bio-data encoding in a photonic sequence comparison architecture

    , Article PLoS ONE ; Volume 16, Issue 1 , 2021 ; 19326203 (ISSN) Akbari Rokn Abadi, S ; Dijujin, N. H ; Koohi, S ; Sharif University of Technology
    Public Library of Science  2021
    Abstract
    In this study, optical technology is considered as SA issues’ solution with the potential ability to increase the speed, overcome memory-limitation, reduce power consumption, and increase output accuracy. So we examine the effect of bio-data encoding and the creation of input images on the pattern-recognition error-rate at the output of optical Vander-lugt correlator. Moreover, we present a genetic algorithm-based coding approach, named as GAC, to minimize output noises of cross-correlating data. As a case study, we adopt the proposed coding approach within a correlation-based optical architecture for counting k-mers in a DNA string. As verified by the simulations on Salmonella whole-genome,... 

    Whole-genome analysis of de novo somatic point mutations reveals novel mutational biomarkers in pancreatic cancer

    , Article Cancers ; Volume 13, Issue 17 , 2021 ; 20726694 (ISSN) Ghareyazi, A ; Mohseni, A ; Dashti, H ; Beheshti, A ; Dehzangi, A ; Rabiee, H. R ; Alinejad Rokny, H ; Sharif University of Technology
    MDPI  2021
    Abstract
    It is now known that at least 10% of samples with pancreatic cancers (PC) contain a causative mutation in the known susceptibility genes, suggesting the importance of identifying cancer-associated genes that carry the causative mutations in high-risk individuals for early detection of PC. In this study, we develop a statistical pipeline using a new concept, called gene-motif, that utilizes both mutated genes and mutational processes to identify 4211 3-nucleotide PC-associated gene-motifs within 203 significantly mutated genes in PC. Using these gene-motifs as distinguishable features for pancreatic cancer subtyping results in identifying five PC subtypes with distinguishable phenotypes and... 

    Genome annotation and comparative genomic analysis of Bacillus subtilis MJ01, a new bio-degradation strain isolated from oil-contaminated soil

    , Article Functional and Integrative Genomics ; Volume 18, Issue 5 , 2018 , Pages 533-543 ; 1438793X (ISSN) Rahimi, T ; Niazi, A ; Deihimi, T ; Taghavi, S. M ; Ayatollahi, S ; Ebrahimie, E ; Sharif University of Technology
    Springer Verlag  2018
    Abstract
    One of the main challenges in elimination of oil contamination from polluted environments is improvement of biodegradation by highly efficient microorganisms. Bacillus subtilis MJ01 has been evaluated as a new resource for producing biosurfactant compounds. This bacterium, which produces surfactin, is able to enhance bio-accessibility to oil hydrocarbons in contaminated soils. The genome of B. subtilis MJ01 was sequenced and assembled by PacBio RS sequencing technology. One big contig with a length of 4,108,293 bp without any gap was assembled. Genome annotation and prediction of gene showed that MJ01 genome is very similar to B. subtilis spizizenii TU-B-10 (95% similarity). The comparison... 

    Building an Iranian Reference Panel by Imputing Low-coverage Genomic Data

    , M.Sc. Thesis Sharif University of Technology Poursoleymani, Rooholla (Author) ; Foroughmand Araabi, Mohammad Hadi (Supervisor)
    Abstract
    One of the most available genomics data in Iran is non-invasive parental testing (NIPT) data obtained from the blood of pregnant mothers after the tenth week of pregnancy using the new generation sequencing technology. Sequencer output is a combination of maternal and fetal read data, most of which (about 90%) is from maternal DNA. These data have very low coverage of the genome, but their advantage is that they read the entire human genome. Low coverage data has led to the loss of large parts of the genome, but having a large number of samples helps to compensate for this problem. The purpose of this project is to use this data with the help of imputation methods to build a reference for... 

    Point-of-use rapid detection of sars-cov-2: Nanotechnology-enabled solutions for the covid-19 pandemic

    , Article International Journal of Molecular Sciences ; Volume 21, Issue 14 , 2020 , Pages 1-23 Rabiee, N ; Bagherzadeh, M ; Ghasemi, A ; Zare, H ; Ahmadi, S ; Fatahi, Y ; Dinarvand, R ; Rabiee, M ; Ramakrishna, S ; Shokouhimehr, M ; Varma, R. S ; Sharif University of Technology
    MDPI AG  2020
    Abstract
    Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused the COVID-19 pandemic that has been spreading around the world since December 2019. More than 10 million affected cases and more than half a million deaths have been reported so far, while no vaccine is yet available as a treatment. Considering the global healthcare urgency, several techniques, including whole genome sequencing and computed tomography imaging have been employed for diagnosing infected people. Considerable efforts are also directed at detecting and preventing different modes of community transmission. Among them is the rapid detection of virus presence on different surfaces with which people may come in... 

    Whole genome sequencing of SARS-CoV2 strains circulating in Iran during five waves of pandemic

    , Article PLoS ONE ; Volume 17, Issue 5 May , 2022 ; 19326203 (ISSN) Yavarian, J ; Nejati, A ; Salimi, V ; Jandaghi, N.Z.S ; Sadeghi, K ; Abedi, A ; Zarchi, A. S ; Gouya, M. M ; Mokhtari Azad, T ; Sharif University of Technology
    Public Library of Science  2022
    Abstract
    Purpose Whole genome sequencing of SARS-CoV2 is important to find useful information about the viral lineages, variants of interests and variants of concern. As there are not enough data about the circulating SARS-CoV2 variants in Iran, we sequenced 54 SARS-CoV2 genomes during the 5 waves of pandemic in Iran. Methods After viral RNA extraction from clinical samples collected during the COVID-19 pandemic, next generation sequencing was performed using the Nextseq platform. The sequencing data were analyzed and compared with reference sequences. Results During the 1st wave, V and L clades were detected. The second wave was recognized by G, GH and GR clades. Circulating clades during the 3rd... 

    Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

    , Article American Journal of Human Genetics ; Volume 108, Issue 2 , 2021 , Pages 324-336 ; 00029297 (ISSN) Fan, S ; Jiao, Y ; Khan, R ; Jiang, X ; Javed, A. R ; Ali, A ; Zhang, H ; Zhou, J ; Naeem, M ; Murtaza, G ; Li, Y ; Yang, G ; Zaman, Q ; Zubair, M ; Guan, H ; Zhang, X ; Ma, H ; Jiang, H ; Ali, H ; Dil, S ; Shah, W ; Ahmad, N ; Zhang, Y ; Shi, Q ; Sharif University of Technology
    Cell Press  2021
    Abstract
    Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression. Here, we identified three homozygous mutations in the SC coding gene C14orf39/SIX6OS1 in infertile individuals from different ethnic populations by whole-exome sequencing (WES). These mutations include a frameshift mutation (c.204_205del [p.His68Glnfs∗2]) from a consanguineous Pakistani family with two males suffering from non-obstructive...