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MHC And KIR Genotyping Of Macaques In HIV Infection Research
Matula, Jan
Modern research of viral diseases relies on genomic data processing. Not only is the sequence of a virus important, genomic sequence of specific receptors in affected organisms also plays an important role. In this paper, a novel package for processing of next generation sequencing data in infectious disease written using R/Bioconductor language is proposed. Functionality of the package, including implementation of advanced SSAHA algorithm for fast database searches, in demonstrated using genotyping of genes for MHC and KIR receptors of HIV positive macaques.
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Bioinformatic analysis of single nucleotide polymorphisms in the 1000 Genomes Project database
Parobková, Viktória ; Roy, Sudeep (referee) ; Provazník, Ivo (advisor)
Sekvenovanie celého ľudského genómu a nájdenie jeho variácii bolo výzvou počas mnohých rokov. Znalosť všetkých genetických variácií je pozoruhodne prospešná pri výskume chorôb. Táto práca je zameraná na genetické variácie človeka a ich dva hlavné výskumné projekty, The HapMap Project a The 1000 Genomes Project, ktoré pomohli v analýze chorôb. Prvá časť práce je venovaná teoretickému popisu projektov. V nasledujúcej časti práce sú popísané štruktúry databáz u oboch projektov a taktiež je predstavený online nástroj umožňujúci prehľadávanie a sťahovanie ich dát. Následne je prevedená štatistická, populačná a bioinformatická analýza štrukturálnych variácií produkovaných 3 fázou 1000 Genomes projektu.
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Methods for storing and archiving zoological tissue collections, and identification based on DNA barcoding
Aghová, Tatiana ; Benda, Petr ; Brejcha, Jindřich ; Dolejš, Petr ; Kyralová, Eva ; Mlíkovský, Jiří ; Moravec, Jiří ; Šanda, Radek ; Štundl, Jan ; Tkoč, Michal ; Vondráček, Dominik
Fulltext:  PDF; PDF; PDF; PDF
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CNV detection in bacterial genomes
Lacinová, Michaela ; Sedlář, Karel (referee) ; Škutková, Helena (advisor)
This master thesis deals with analysis of structural variation of genome and with methods of its sequencing across all generations. Subsequently it contains a description of copy number variation and methods of its detection. The experimental part focuses on algorithm proposal for CNV detection according analysis and testing of uneven coverage in genome, variable representation of GC content and distance of sequence reads. Finally, the algorithm for detecting copy number variation is tested on genomic data of bacteria Klebsiella pneumoniae.
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Complex characterization of subgingival plaque - use of modern sequencing methods in diagnostics and monitoring of treatment of periodontal diseases
Těšínská, Barbora ; Najmanová, Lucie (advisor) ; Konopásek, Ivo (referee)
Periodontitis is a multifactorial inflammatory disease which can result in a complete loss of teeth. Its main cause is the accumulation of bacteria from the dental plaque followed by massive reaction of the host immune system. It was proved that the composition of oral microbiome (OM) differs in periodontally healthy individuals and patients with periodontitis. This work aims to solve specific parts of the long-term project concerning the taxonomic composition of the OM of periodontally healthy individuals and patients with chronic and aggressive form of the disease. The OM was characterized based on 16s rDNA sequencing. It is evident from the results that the shift in the OM composition occurs prior the development of clincal signs of the disease and that the precise dental care can significantly postpone or even avoid the onset of the disease. When comparing the OM composition in individuals with chronic and aggressive periodontitis, no remarkable differences were detected to explain the faster progress of the aggressive form of the disease. This work also aimed to compare the results obtained by 454 pyrosequencing and Illumina. Both sequencing methods were found to provide statistically comparable results. Illumina MiSeq thus can be employed to build on the former results of the long-term study...
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Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia
VONKOVÁ, Barbara
Chronic lymphocytic leukemia is the most common type of leukemia in adults in western countries. Despite the continual improvement of diagnostic methods and treatment, it still remains incurable. One of the main characteristic features of CLL is its clinical and biological variability. In present, the analysis of prognostic genetic markers is the most useful tool for understanding biology and clinical course of the disease and consequently the individual type of treatment. The presence of a NOTCH1 mutation is connected with shortened survival and resistance to conventional chemo-immunotherapy. In this thesis, we examined CLL patients with c.7541_7542delCT NOTCH1 mutation and the most sensitive and specific method was identified. We compared nowadays most commonly used methods: allele-specific PCR, fragment analysis and Sanger sequencing.
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Taxonomic classification of yeasts associated with meadow plants
Čurillová, Natália ; Ing.Hana Dudášová, Ph.D. (referee) ; Horváthová, Ágnes (advisor)
In total 60 yeast strains isolated from meadow flowers were selected for identification using MALDI-TOF biotyping. Selected yeast strains were prepared according to standard (Bruker) method and method developed at Institute of Chemistry SAS in Bratislava for MALDI-TOF yeast identification. To acquire valuable data two cultivating media were used. The principle of identification embody in comparing obtained mass spectra according to the score of selected yeast strain isolated from meadow plants, formerly identified by physicobiochemical properties (verification of their taxonomic classification) or the new isolates (their identification) with mass spectra of the reference yeast cultures. Reference yeast cultures were identified by sequencing the D1/D2 of 26S rRNA domain. In total 53 yeast strains were identified by biotyping at species level. The remaining 7 yeast strains were designed to be identified by sequencing the D1/D2 26S rRNA domain as the reference mass spectra were not available. The highest abundance of yeast species was as follows Metschnikowia pulcherrima (12 %), Rhodotorula spp. (12 %), Cystofilobasidium infirmominiatum (10 %), Metschnikowia reukaufii (7 %), Metschnikowia fructicola (7 %), Sporobolomyces metaroseus (7 %), Hanseniospora uvarum (5 %), Rhodotorula mucilaginosa (5 %), Meyerozyma guillermondii (5 %), Cystofilobasidium macerans (3 %) a Rhodotorula dairenensis (3 %), and yeast strains of species Candida bombi, Pichia kudravzievii, Cystofilobasidium capitatum, Cystofilobasidium macerans, Solicoccozyma aeria, Sporidiobolus salmonicolor, Papiliotrema flavescens, Sporidiobolus metaroseus, Sporidiobolus pararoseus and Cryptococcus wieringae were identified as well. In general, the most diverse abundance of yeast species were isolated from meadow plants comparing to the older studies.
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Verification of somatic mutations important for neuroectodermal tumors (CTNNB1, BRAF, ALK)
Hrindová, Božidara ; Vícha, Aleš (advisor) ; Janatová, Markéta (referee)
The diploma thesis was focused on evidence of selected somatic mutations in genes ALK (Anaplastic lymphoma receptor tyrosine kinase), BRAF (v-Raf murine sarcoma viral oncogene homolog B1) and β-catenin (CTNNB1) through molecular - genetic methods in the target group of neuroectodermal tumors (neuroblastoma, medulloblastoma, brain tumors, paraganglioma and pheochromocytoma). Some of them are already considered as prognostic indicators which help to identify the subtype of various tumors and on the basis of this molecular - biological classification choosing the appropriate treatment. The genetic material of 133 patients was used for the analysis divided by the type of cancer. The presence of the mutation was detected in seven cases, of which two of them beloged to the gene BRAF, one to the gene ALK and four to the gene β-catenin. The subject of research in the cases of this genes were hotspot mutation sites. The purpose was to confirm the presence of the mutation in the hotspots and contribute to the studies which are aimed at the introduction of more suitable treatment through the inhibitors of mutated genes. Keywords: ALK, BRAF, β-catenin (CTNNB1), neuroectodermal tumors, sequencing, MLPA
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