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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
11

Visualization and analysis of cancer genome sequencing studies

Park, Richard Won 22 January 2016 (has links)
Large-scale genomics projects such as the Cancer Genome Atlas (TCGA), and the Encyclopedia of DNA Elements (ENCODE) involve generation of data at an unprecedented scale, requiring new computational techniques for analysis and interpretation. In the three studies I present in this thesis, I utilize these data sources to derive biological insights or created visualization tools that enable others to obtain insights more easily. First, I examine the distribution of the lengths for copy number variations (CNVs) in the cancer genome. This analysis shows that a small number of genes are altered at a greater frequency than expected from a power law distribution, suggesting that a large number of genomes must be sequenced for a given tumor type to a comprehensive discovery of somatic mutations. Second, I investigate germline CNVs in thousands of TCGA samples using single nucleotide polymorphism (SNP) array data to find variants that may confer increased susceptibility to cancer. This CNV-based genome-wide association study resulted in many germline CNVs that potentially increase risk in brain, breast, colorectal, renal, or ovarian cancers. Finally, I apply several visualization techniques to create tools for the TCGA and ENCODE projects in order to help investigators better process and synthesize meaning from large volume of data. Seqeyes combines linear and circular genomic views to explore predicted structural variations to help guide experimental validation. The modEncode browser visualizes chromatin organization by integrating data from a multitude of histone marks and chromosomal proteins. These results present visualization as a useful strategy for rapid identification of salient genomic features from large, heterogeneous genomic datasets.
12

Décrypter les données omiques : importance du contrôle qualité. Application au cancer de l'ovaire / Decipher omics data, on the importance of quality control.

Sambourg, Laure 18 December 2013 (has links)
Décrypter les données omiques : importance du contrôle qualité. Application au cancer de l’ovaire Au cours des dix dernières années, la taille et la complexité des données biologiques ont littéralement explosé, et une attention particulière doit être portée au contrôle qualité. En effet, certaines données omiques (données génomiques et post-génomiques obtenues à haut débit) sont très incomplètes et/ou contiennent de nombreux biais et erreurs qu’il est facile de confondre avec de l’information biologiquement intéressante. Dans cette thèse, nous montrons que les interactions protéine-protéine issues de curation de la littérature et les interactions identifiées à haut débit sont beaucoup plus corrélées que ce qui est communément admis. Nous examinons l’interactome de la levure d’un point de vue original, en prenant en compte le degré d’étude des protéines par la communauté scientifique et nos résultats indiquent que cette corrélation s’estompe lorsqu’on se restreint aux protéines très étudiées. Ces observations nous permettent de proposer une méthode simple et fiable pour estimer la taille d’un interactome. Notre méthode conduit à une estimation d’au moins 37 600 interactions physiques directes chez S. cerevisiae, et montre que les évaluations précédentes sont trop faibles. Par ailleurs, nous étudions des données de séquençage nouvelle génération de l’ADN. Par une analyse des biais existant entre les short-reads alignés sur un brin ou sur l’autre du génome, nous mettons en évidence de nombreuses erreurs systématiques. De plus, nous observons de multiples positions présentant entre 20 et 40% de short-reads portant l’allèle variant : celles-ci ne peuvent pas être génotypées correctement. Nous proposons une méthode fiable pour appeler les génotypes à partir des données NGS qui permet de s’affranchir de ses difficultés. Enfin, nous appliquons cette méthode sur des données massives de séquençage d’exome de cellules saines et tumorales de 520 patientes atteintes du cancer de l’ovaire, produites par le consortium TCGA. Nous détectons en moyenne 30 632 variants germinaux par patiente. Parmi ces variants, nous identifions ceux les plus enclins à conférer un risque accru de développer la maladie : nous nous restreignons notamment aux variants induisant une perte de fonction de la protéine encodée et significativement plus présents chez les patientes que dans la population générale. Cela conduit à 44 SNVs par patiente en moyenne, répartis sur 334 gènes dans l’ensemble de la cohorte. Parmi ces 334 gènes, 42 ont été reportés comme impliqués dans la cancerogénèse, confirmant que la liste de candidats identifiés est fortement enrichie en gènes de susceptibilité au cancer de l’ovaire. En particulier, nos travaux confirment le rôle de suppresseur de tumeur de la protéine MAP3K8, très récemment proposée comme jouant un rôle clé dans d’autres cancers. / Deciphering omics data : on the importance of quality control. Application to ovarian cancer. Over the past 10 years, the size and complexity of biological data have exploded, and quality control is critical to interpret them correctly. Indeed, omics data (high- hroughput genomic and post-genomic data) are often incomplete and contain bias and errors that can easily be misinterpreted as biologically interesting findings. In this work, we show that literature-curated and high-throughput protein-protein interaction data, usually considered independent, are in fact significantly correlated. We examine the yeast interactome from a new perspective by taking into account how thoroughly proteins have been studied, and our results show that this bias can be corrected for by focusing on well- studied proteins. We thus propose a simple and reliable method to estimate the size of an interactome, combining literature-curated data involving well-studied proteins with high- hroughput data. It yields an estimate of at least 37,600 direct physical protein-protein interactions in S.cerevisiae, a significant increase over previous estimates. We then focus on next-generation DNA sequencing data. An analysis of the bias existing between short- eads aligned on each strand of the genome allows us to highlight numerous systematic errors. Furthermore, we observe many positions that exhibit between 20 and 40% of reads carrying the variant allele : these cannot be genotyped correctly.We then propose a method to overcome these biases and reliably call genotypes from NGS data. Finally, we apply our method to exome-seq data produced by the TCGA for tumor and matched normal samples from 520 ovarian cancer patients. We detect on average 30,632 germline variants per patient. Though an integrative approach, we then identify those which are likely to increase cancer risk : in particular, we focused on variants inducing a loss of function of the encoded protein, and selected those that are significantly more present in the patients than in the general population. We find 44 SNVs per patient on average, impacting 334 genes overall in the cohort. Among these genes, 42 have been previously reported as involved in carcinogenesis, confirming that our list is highly enriched in ovarian cancer susceptibility genes. In particular, our results confirm the tumor suppressor role of the MAP3K8 protein, recently identified in other types of cancer.
13

The bioinformatic characterization of five novel poxviruses

Tu, Shin-Lin (Cindy) 23 April 2018 (has links)
Poxviruses are double stranded (ds) DNA viruses with large brick-shaped virions (~200x300nm) that can be seen by light microscopy. The Chordopoxvirus (ChPV) subfamily demonstrates a vast genetic diversity in poxvirus virulence and evolution, and infects a wide range of vertebrate hosts including human/primates, rodents, birds, squirrels, and many economically important ruminants. There are at least 14 distinct ChPV genera, whose members have genomes that range between 127-360 kbp, and can be either GC-rich (33-38% A+T base composition) or AT-rich (up to 76% A+T). My work in the assembly and annotation of novel poxviruses serves to enrich the poxvirus sequence repository and further virulence characterization, comparative analysis, and phylogenetic studies. Using a variety of programs, as well as tools developed by the Virus Bioinformatics Research Centre, a protocol is created, refined, and applied to the assembly and annotation of novel poxviruses: Pteropox virus (PTPV) from a south Australian megabat Pteropus scapulatus, Eptesipox virus (EPTV) from a north American microbat Eptesicus fuscus, sea otter poxvirus (SOPV) from the north American Enhydra lutris, and two Kangaroopox viruses western and eastern Kangaroopox viruses (WKPV, EKPV) from the Australian Macropus fuliginosus and Macropus giganteus. This is the first time poxviruses from these vertebrate hosts are assembled in full, and the result supports the establishment of 4 new ChPV genera. The two bat-isolated poxviruses, PTPV and EPTV, likely did not co-speciate with their hosts despite infection of related host species. Instead, EPTV forms a sister clade with the Clade II virus, and together forms a sister group with the orthopoxviruses. On the other hand, PTPV and SOPV are each other’s closest extant relatives despite the distant geographical location from which they were isolated; together they share a novel homolog of TRAIL (Tumor necrosis factor-Related Apoptosis-Inducing Ligand) never before seen in poxviruses. SOPV additionally encodes distinct interleukin (IL)-18 binding protein and tumor necrosis factor (TNF) receptor-like protein that could have novel immune-evasion roles. The KPVs present the first case of a putative viral cullin-like protein, which might be involved in regulating the host ubiquitination pathway. Altogether, these novel proteins can potentially serve as new virokines and viroceptors in the form of viromimicry pathogenesis; they demonstrate the capacity and diversity with which poxviruses modulate host immune responses in their favour, and should be studied further. / Graduate / 2019-04-11
14

Detecção de novas espécies virais em inhame (Dioscorea spp.) no Brasil por sequenciamento de nova geração

HAYASHI, Evelyn Anly Ishikawa 29 February 2016 (has links)
Submitted by Mario BC (mario@bc.ufrpe.br) on 2016-12-01T12:56:42Z No. of bitstreams: 1 Evelyn Anly Ishikawa Hayashi.pdf: 995457 bytes, checksum: 6e8e0ab5195fade5b6ad359231618e69 (MD5) / Made available in DSpace on 2016-12-01T12:56:42Z (GMT). No. of bitstreams: 1 Evelyn Anly Ishikawa Hayashi.pdf: 995457 bytes, checksum: 6e8e0ab5195fade5b6ad359231618e69 (MD5) Previous issue date: 2016-02-29 / Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPq / The yam (Dioscorea spp.) has an important socio-economic role in tropical and subtropical regions of Asia, Africa and the Americas including the Caribbean. In Brazil, it is a significant source of income and food for the local populations and family agriculture, especially in the Northeast region of the country. The crop yield is very affected by both abiotic factors and biotic agents, including fungi, nematodes and viruses. Diseases caused by viruses are important because the vegetative propagation of yam provides the accumulation and spread of these pathogens on successive crops. To date, the reported viruses in this crop belong to nine genera: Aureusvirus, Badnavirus, Carlavirus, Comovirus, Cucumovirus, Fabavirus, Macluravirus, Potexvirus and Potyvirus. The objective of the present work was to analyze, through the Next Generation Sequencing (NGS), different viral species that infect the yam in fields located in the states of Pernambuco and Paraíba and in the Federal District. Leaf tissue samples of D. rotundata and D. alata were subjected to partial virus purification, the total RNA was extracted and submitted to NGS. The nucleotide reads obtained were assembled using CLC Genomics Workbench 6.5 program and the contigs using Geneious program. Based on the data obtained from NGS it was possible to detect three new virus species reported in this work. It was sequenced the complete genome of two new species, one belonging to the family Secoviridae, with the proposed name Dioscorea virus S (DVS), and another to Foveavirus genus of the family Betaflexiviridae, called Dioscorea virus F (DVF). For the third species described, belonging to the family Closteroviridae, it was done only the viral detection in the collected samples and proposed the name Dioscorea virus C (DVC). / O inhame (Dioscorea spp.) apresenta importante papel socioeconômico nas regiões tropicais e subtropicais da Ásia, África e Américas incluindo o Caribe. No Brasil, se constitui uma expressiva fonte de renda e alimento para as populações locais e agricultura familiar, principalmente na região Nordeste do país. A produtividade da cultura é bastante afetada, tanto por fatores abióticos, como por agentes bióticos, entre os quais fungos, nematoides e vírus. Doenças causadas por vírus são importantes, pois a propagação vegetativa do inhame proporciona o acúmulo e disseminação desses patógenos em cultivos sucessivos. Até o momento, os vírus relatados nesta cultura pertencem a nove gêneros: Aureusvirus, Badnavirus, Carlavirus, Comovirus, Cucumovirus, Fabavirus, Macluravirus, Potexvirus e Potyvirus. No presente trabalho objetivou-se analisar, através do Sequenciamento de Nova Geração (Next Generation Sequencing - NGS), as diferentes espécies virais que infetam o inhame em plantios localizados nos estados de Pernambuco e Paraíba e no Distrito Federal. Amostras de tecido foliar de D. rotundata e D. alata foram submetidas a purificação viral parcial, o RNA total foi extraído e submetido ao NGS. As leituras nucleotídicas obtidas foram montadas utilizando o pragrama CLC Genomics Workbench 6.5 e os contigs utilizando o programa Geneious. Por meio dos dados obtidos por NGS foi possível a detecção de três espécies virais novas relatadas neste trabalho. Foi sequenciado o genoma completo de duas espécies, uma pertencente à família Secoviridae, que recebeu o nome Dioscorea virus S (DVS), e outra ao gênero Foveavirus da família Betaflexiviridae, denominada de Dioscorea virus F (DVF). Para a terceira espécie descrita, pertencente à família Closteroviridae, foi feita apenas a detecção viral nas amostras coletadas e a proposição do nome Dioscorea virus C (DVC).
15

Acesso ao microbioma de cana-de-açúcar por análise de seu transcritoma e possíveis fatores moduladores /

da Silva, Rafael Correia January 2020 (has links)
Orientador: Daniel Guariz Pinheiro / Resumo: O conjunto de microrganismos que vivem junto das plantas é chamado de microbioma ou fitomicrobioma, e exerce diversos papéis conjuntamente com seu hospedeiro inclusive para a manutenção da saúde conjunta, considerando que co-evoluíram juntos, como um holobionte e, portanto, podem ter desenvolvido mecanismos de adaptação mútua. No presente trabalho, exploramos a diversidade do microbioma de cana-de-açúcar pela mineração de dados de RNA-Seq: realizamos atribuição taxonômica às sequências daqueles organismos que foram sequenciados conjuntamente com as plantas, mas que não foram analisados em nenhum ponto. Dados de 15 acessos do SRA contendo 246 bibliotecas foram obtidos, totalizando 841 Gigabases. As leituras dessas bibliotecas foram processadas, montadas em sequências a fim de reconstruir as moléculas de RNA e passaram por processo de atribuição taxonômica com o Kraken2 usando um banco de referência expandido personalizado, gerando uma contagem de organismos por biblioteca, sendo que os \textit{taxa} microbianos foram quantificados a partir da identificação de 09 milhões de leituras correspondentes. Como prova de conceito do método, validamos diversas observações que já existiam sobre a diversidade do microbioma da cana-de-açúcar. Revelamos que em todas as plantas, há uma presença quase ubíqua de bactérias Gammaproteobacteria, especialmente Pseudomonas e Xanthomonas e de fungos Ascomycota. Além disso, que a diversidade é alterada pela natureza do estresse na planta, hídrico ou ... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The set of microorganisms that live under the influence of its host is called microbiome or in case of plants, phytomicrobiome, and they play various roles alongside their host including in maintaining the health of the pair, considering that they co-evolved together as a holobiont and thus may developed mechanisms of mutual adaptation. In the present work, we explored the diversity of the sugarcane microbiome by mining RNA-Seq data: we performed taxonomic assignment to RNA sequences of those organisms that were sequenced together with the plants but were not analyzed at any point. As proof-of-concept, we were able to validate several known observations of the sugarcane microbiome. We revealed that in all plants there is an almost ubiquitous presence of Gammaproteobacteria, especially Pseudomonas and Xanthomonas and fungi Ascomycota. In addition, that diversity is altered the stress implied on the sugarcane plant, be it abiotic (drought) or biological (infection), and that the major modulators in the community are mostly the plant compartment and the type of stress involved. We also observed a set of original organisms negatively and positively correlated with smut disease, caused by Sporisorium scitamineum, potentially antagonistic to the disease agent. Additionally, we detected differentially abundant phytomicrobiome activity between treatments, including those in which plant-induced infection was performed. Finally, virus sequences were assembled, and we were able to retri... (Complete abstract click electronic access below) / Mestre
16

Transcriptional landscape of ncRNA and Repeat elements in somatic cells

Ghosheh, Yanal 01 December 2016 (has links)
The advancement of Nucleic acids (DNA and RNA) sequencing technology has enabled many projects targeted towards the identification of genome structure and transcriptome complexity of organisms. The first conclusions of the human and mouse projects have underscored two important, yet unexpected, findings. First, while almost the entire genome is transcribed, only 5% of it encodes for proteins. Thereby, most transcripts are noncoding RNA. This includes both short RNA (<200 nucleotides (nt)) comprising piRNAs; microRNAs (miRNAs); endogenous Short Interfering RNAs (siRNAs) among others, and includes lncRNA (>200nt). Second, a significant portion of the mammalian genome (45%) is composed of Repeat Elements (REs). RE are mostly relics of ancestral viruses that during evolution have invaded the host genome by producing thousands of copies. Their roles within their host genomes have yet to be fully explored considering that they sometimes produce lncRNA, and have been shown to influence expression at the transcriptional and post-transcriptional levels. Moreover, because some REs can still mobilize within host genomes, host genomes have evolved mechanisms, mainly epigenetic, to maintain REs under tight control. Recent reports indicate that REs activity is regulated in somatic cells, particularily in the brain, suggesting a physiological role of RE mobilization during normal development. In this thesis, I focus on the analysis of ncRNAs, specifically REs; piRNAs; lncRNAs in human and mouse post-mitotic somatic cells. The main aspects of this analysis are: Using sRNA-Seq, I show that piRNAs, a class of ncRNAs responsible for the silencing of Transposable elements (TEs) in testes, are present also in adult mouse brain. Furthermore, their regulation shows only a subset of testes piRNAs are expressed in the brain and may be controlled by known neurogenesis factors. To investigate the dynamics of the transcriptome during cellular differentiation, I examined deep RNA-Seq and Cap Analysis of Gene Expression (CAGE) data from time-course progression program of primary human skeletal muscle cell differentiation. I contrasted this program with Duchenne Muscular Dystrophy (DMD) donors. I identified novel candidates, protein-coding genes and lncRNAs, that may be involved in myogenesis and reaffirmed known myogenic players. Using RNA-Seq data, I designed a novel pipeline to identify possible de novo insertion sites during muscular differentiation, which I have also tested on embryonic mouse cerebral cortex.
17

Identificação de vírus em amendoim forrageiro e pimenta por sequenciamento de nova geração /

Pantoja, Késsia de Fátima da Cunha January 2020 (has links)
Orientador: Renate Krause Sakate / Resumo: A espécie Arachis pintoi, conhecida como amendoim forrageiro, é uma leguminosa nativa do Brasil. Muitas são as utilidades atribuídas ao amendoim forrageiro, sendo seu uso mais comum como espécie forrageira, fornecendo alimento em grande quantidade e qualidade aos animais, em plantios puros ou consórcio com gramíneas. A ocorrência de sintomas de viroses em genótipos e cultivos de amendoim forrageiro tem sido observada por pesquisadores em diferentes estados brasileiros. No Brasil, apenas duas espécies virais já foram relatadas: o Peanut mottle virus- PeMoV e o Cowpea mild mottle virus - CpMMV. O objetivo deste trabalho foi estudar os vírus de plantas de amendoim forrageiro do Banco de Germoplasma da Embrapa Acre e detectar viroses em plantas de pimenta Cumari-do-Pará. Para detectar possíveis vírus nesses genótipos, uma análise de sequenciamento de nova geração foi realizada. A extração total de RNA dos 22 acessos foi realizada com o kit RNA Viral PureLink (Invitrogen) seguida de preparação da biblioteca e sequenciamento do transcriptoma utilizando a plataforma Illumina HiSeq2500. A montagem de novo das leituras de 24.659.442 foi realizada usando o software CLC Genomics Workbench v7.0.3. Os 9.709 contigs obtidos foram submetidos a uma pesquisa BLASTn usando o software Geneious v.9.1.5. A análise metagenômica permitiu a identificação de sete espécies de vírus: Peanut mottle virus - PeMoV (Potyvirus), Cucumber mosaic virus sub-grupo IB (Cucumovirus), Cowpea chlorotic mottle virus... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The species Arachis pintoi, known as forage peanuts is a native legume from Brazil. There are many uses attributed to forage peanut, being its most common use as a forage species, providing food in large quantity and quality to the animals, in single crops or consortium with grasses. The occurrence of virus symptoms in forage peanut genotypes and crops has been observed by researchers in different Brazilian states. In Brazil, only two viral species have been reported: Peanut mottle virus-PeMoV and Cowpea mild mottle virus-CpMMV. The objective of this work was to study the forage peanut plant viruses of the Embrapa Acre Germplasm Bank and to detect viruses in Cumari-do-Pará pepper plants. To detect possible viruses in these genotypes, a new generation sequencing analysis was performed. Total RNA extraction from the twenty-two accessions was performed with the PureLink Viral RNA Kit (Invitrogen) followed by library preparation and transcriptome sequencing using the Illumina HiSeq2500 platform. Re-assembly of the 24,659,442 readings was performed using the CLC Genomics Workbench v7.0.3 software. The 9,709 contigs obtained were subjected to a BLASTn search using the Geneious v.9.1.5 software. Metagenomic analysis allowed the identification of seven virus species: Peanut mottle virus - PeMoV (Potyvirus), Cucumber mosaic virus subgroup IB (Cucumovirus), Cowpea chlorotic mottle virus - CCMV (Bromovirus) and a probable new member of the Potyviridae family, and also new species of the... (Complete abstract click electronic access below) / Doutor
18

Přínos Next Generation Sequencing pro laboratorní diagnostiku / Contribution of Next Generation Sequencing for Laboratory Diagnostics

Votýpka, Pavel January 2015 (has links)
5 ABSTRACT Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Pavel Votýpka Supervisor: Doc. PharmDr. Martin Beránek, Ph.D. Consultant: Mgr. Nikola Ptáková Title of diploma thesis: Contribution of Next Generation Sequencing for Laboratory Diagnostics The endeavor to sequence the whole human genome lead not only to the knowledge acquisition regarding the human genetic information but as well to the development of new sequencing methods and technologies. In order to keep up with progress in genetic field in many clinical and research laboratories the new massive parallel sequencing equipment is being utilized. On the market are currently established four leading platforms - Illumina, Solid, Ion Torrent and 454 Life Technologies. The process of sequencing analysis can be summarized into three main steps - the sequencing library preparation, sequencing itself, variant calling and data analysis. Each part of the sequencing analysis exhibits certain specifics, we need to count with and as well its pitfalls, we need to avoid or to minimalize their impact on the analysis final result. Recently new methods termed sequencing of the 3rd generation are being developed, enabling sequence of a single DNA molecule to be determined without previous...
19

Stutter analysis of a family pedigree via massively parallel sequencing utilizing the ForenSeq DNA Signature Prep kit

Porto, Andre C. 11 October 2019 (has links)
Current forensic DNA analysis utilizes capillary electrophoresis (CE) to separate short tandem repeat (STR) fragments based on their length. Next generation sequencing (NGS) is the next evolution of forensic DNA profiling, and though dedicated forensics protocols are still fairly new, it is only a matter of time before NGS becomes the new standard for forensic DNA profiling. Stutter has been a problem ever since forensic STR testing was first implemented. The slipped strand mispairing model is the proposed mechanism for how stutter occurs, and it appears to be an intrinsic part of the polymerase chain reaction (PCR). Samples that were run via the ForenSeq™ DNA Signature Prep Kit were amplified using the DNA Primer Mix A (DPMA) and then sequenced on a MiSeq FGx™ Forensics Genomics System. Samples were also amplified using the GlobalFiler™ PCR Amplification kit and fragment separation was done via capillary electrophoresis. Stutter ratios were calculated by dividing the read count /relative fluorescence unit of the stutter allele by the read count / relative fluorescence unit of the parent allele. Stutter ratio comparisons were made between the ForenSeq™ and GlobalFiler™ kits as well as between the parents and the children in the family pedigree, though only samples tested using the ForenSeq™ kit were used. Comparison of overall stutter ratios revealed that the ForenSeq™ kit produced higher stutter across all STR loci, except for D13S317 and D2S441, when compared to the GlobalFiler™ kit. The different chemistries between the two kits, potential usage of different polymerases, and the fact that the ForenSeq™ kit requires two rounds of amplification can serve as likely explanations for this difference. There was also quite a bit of variability observed for the stutter ratios between loci in the samples run using the ForenSeq™ kit. Possible explanations for this could be that the cluster generation step could produce more clusters for some stutter products over others. Comparison of the stutter ratios for the pedigree obtained from the Coriell Institute revealed no differences between the parents and the respective alleles inherited by the children when tested with the ForenSeq™ kit. Some loci showed a difference between the parent and children, but that could simply be due to the sample size. The utilization of NGS for STR testing can result in two alleles of the same length but different sequences, called isoalleles. Analysis of isoalleles present at D21S11 in the children samples from the Coriell Institute pedigree showed that the isoalleles had different mean stutter ratios. The results open the possibility of potentially utilizing sequence-specific stutter filters in the ForenSeq™ Universal Analysis Software. The model of the longest uninterrupted stretch (LUS) has been around for some time, though recently the block length of missing motif (BLMM) has been proposed as a better predictor for stutter ratios. The results of stutter ratio analysis at D21S11 show that as the length of the BLMM increases, so too does the stutter ratio.
20

Micobioma associado a amostras de solos do centro-oeste paulista mediante Sequenciamento de Nova-Geração (NGS)

Yamauchi, Danielle Hamae January 2020 (has links)
Orientador: Eduardo Bagagli / Resumo: O reino fungi é constituído por amplos grupos de organismos com reconhecida importância ecológica, industrial ou médica. O solo é um importante reservatório para microrganismos, especialmente fungos, que atuam na decomposição e reciclagem de nutrientes ou se associam com animais e plantas em relações simbióticas ou causando patogenias. Ainda são poucos os estudos relacionados a estrutura do micobioma, sendo rasa a compreensão da diversidade e ecologia de fungos. A compreensão dos padrões de distribuição da diversidade fúngica é essencial para mensurar as mudanças naturais e antrópicas relacionadas a estas comunidades, tal como entender a ecologia e epidemiologia dos fungos considerados patogênicos. Neste trabalho caracterizamos a diversidade fúngica das amostras de solo em diferentes ambientes no município de Botucatu (Brasil), descrevendo a estrutura da comunidade fúngica e mensurando a prevalência dos fungos patogênicos, mediante a técnica de Sequenciamento de Nova Geração (NGS). No sequenciamento mediante plataforma Illumina, analisamos 44 amostras provenientes de 8 ambientes diferentes, em dois períodos (outono e primavera), incluindo tocas de tatus, corujas e outros ambientes relacionados. A riqueza e diversidade variaram entre os ambientes, sendo favorecido nas amostras ambientais da floresta sazonal semidecidual e das tocas de tatus, os quais possuem uma maior cobertura vegetal. Ainda, ambientes mais antropizados, com menores efeitos de cobertura vegetal, como edifício... (Resumo completo, clicar acesso eletrônico abaixo) / Mestre

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