O uso de fertilizantes minerais é de grande importância para que a cultura atinja o seu potencial produtivo e torne a atividade de produção viável economicamente, no entanto o uso excessivo é danoso ao meio ambiente, trazendo riscos à saúde humana e à biodiversidade local. A utilização de bactérias promotoras de crescimento de plantas (BPCP) tem se mostrado uma alternativa promissora e sustentável, visando melhorar a produtividade e reduzir o uso de fertilizantes. Essas bactérias colonizam a rizosfera e tecidos internos da planta e são capazes de estimular o desenvolvimento e sanidade de sua hospedeira através de mecanismos como disponibilização de nutrientes, produção de fitohormônios e controle de patógenos. Este estudo teve por objetivo avaliar o efeito da inoculação de três linhagens de BPCP em milho e o impacto causado na comunidade bacteriana associada à cultura. As linhagens utilizadas foram Burkholderia ambifaria RZ2MS16, Bacillus sp. RZ2MS9, ambas isoladas da rizosfera de guaranazeiro, e Azospirillum brasilense Ab-v5, um inoculante comercial. Primeiramente, foi realizado um ensaio de antibiose entre RZ2MS9 e Ab-v5, constatando não haver inibição. Após, um experimento de promoção de crescimento em condições de campo, foi realizado, com plantas de milho inoculadas com: (i) RZ2MS16; (ii) RZ2MS16 e Ab-v5; (iii) Ab-v5; (iv) RZ2MS9; (v) RZ2MS9 e Ab-v5; e (vi) tratamento controle. As sementes foram inoculadas e, 60 dias após o plantio, a altura da planta, altura até a inserção da espiga e o diâmetro do colmo foram medidos. A inoculação com Ab-v5 e a coinoculação de RZ2MS9 com Ab-v5 promoveram o incremento de 3% em altura da planta, além disso, esse consórcio promoveu incremento de 9% no diâmetro do colmo, todos comparados ao tratamento controle. Usando o DNA total da folha e raíz do milho, o fragmento 16S rRNA bacteriano foi sequenciado, através da plataforma Ion Torrent, para avaliar o efeito da inoculação na comunidade bacteriana associada à ambos os tecidos. A inoculação foi capaz de modular a comunidade bacteriana associada à folha, com a análise de coordenadas principais (PCoA) explicando 39,51% da variação. Não foi observada modulação na comunidade bacteriana associada à raiz. Foi observada diferença na estrutura da comunidade bacteriana quando ambos os nichos foram comparados, independente de inoculação, com a PCoA explicando 80,97% dessa variação. Assim observa-se que estudos dessa natureza são de grande importância para o melhor entendimento da interação entre as BPCP e a comunidade bacteirana associada à planta hospedeira, e dos mecanismos que levam ao desenvolvimento da cultura. / The use of mineral fertilizers is of great importance to the crop reaches its potential yield and become the production activity economically feasible, however, its excessive use is harmful to the environment, and brings risk to human health and local biodiversity. The use of plant growth-promoting bacteria (PGPB) has been shown as a promising and sustainable alternative, aiming to improve productivity and reduce fertilizer use. These bacteria colonize the rhizosphere and plant internal tissues and are able to stimulate their host development and health through mechanisms such as nutrient availability, phytohormone production and pathogen control. This study aimed to evaluate the inoculation effect of three PGPB strains in maize and the impact on associated bacterial community. The strains inoculated were Burkholderia ambifaria RZ2MS16, Bacillus sp. RZ2MS9, both isolated from guarana rhizosphere, and Azospirillum brasilense Ab-v5, a commercial inoculant. First, an anthibiosis assay was conducted between RZ2MS9 and Ab-v5 strains, showing no inhibition. Then, a growth-promotion assay was performed under field conditions, with maize plants inoculated with: (i) RZ2MS16; (ii) RZ2MS16 and Ab-v5; (iii) Ab-v5; (iv) RZ2MS9; (v) RZ2MS9 and Ab-v5; and (vi) control. The seeds were inoculated and, 60 days after sowing, the plant height, height to the cob insertion and stem diameter were measured. The inoculation with Ab-v5 and the co-inoculation with RZ2MS9 plus Ab-v5 increased the plant height in 3%, furthermore, the co-inoculation increased stem diameter in 9%, all compared to control. Using total DNA of maize\'s leaf and root, bacterial 16S rRNA fragment was sequenced by Ion Torrent platform, to evaluate the effect of inoculation in associated bacterial community of both tissues. The inoculation was able to modulate the leaf bacterial community, with principal coordinates analysis (PCoA) explaining 39.51% of variation. It was not found modulation on root\'s bacterial community. Difference in the bacterial community structure was observed when both niches were compared, regardless inoculation, with PCoA explaining 80.97% of this variation. Therefore, it is noted that studies of this nature are of great importance for a better understanding of the interaction between PGPB and bacterial community associated to the host plant and mechanisms leading to crop development.

Nesse trabalho avaliaram-se quatro hipóteses sobre a remoção do alquilbenzeno linear sulfonado (LAS) em reator EGSB (expanded granular sludge bed) alimentado ora com água residuária de lavanderia comercial, ora como meio sintético acrescido de LAS Padrão, com e sem suplementação de Fe(III) afluente. Para tanto, em todas as hipóteses utilizou-se reator EGSB (1,4 L) com tempo de detenção hidráulica (TDH) de 36h, condição mesofílica (30ºC) e carga de LAS específica aplicada (CLEA) variando de 1,0 - 2,7 mgLAS.gSTV-1.d-1. DGGE e sequenciamento massivo do gene rRNA 16S (Plataforma 454-Pirosequenciamento e Ion Torrent) foram utilizados para caracterização microbiana. Em relação à Hipótese A avaliou-se o efeito da adaptação prévia da biomassa na remoção do LAS em água residuária. Para tanto, o EGSB-BA (biomassa adaptada) teve uma etapa prévia com LAS padrão e meio sintético (Etapa I), seguida da Etapa II com água residuária; e o EGSB-BNA (biomassa não adaptada) teve etapa única e alimentação diretamente com água residuária. Para a Hipótese B avaliou-se o efeito da suplementação com meio sintético na remoção de LAS em água residuária. Para tanto, o EGSB-Ag.Lav foi alimentado apenas com água residuária e bicarbonato de sódio e duas CLE (Etapa II - 1,0 e Etapa III - 2,7 mg LAS.gSTV-1.d-1). Em relação às Hipóteses C e D, avaliou-se o efeito da suplementação de Fe(III) na remoção de LAS Padrão em meio sintético e LAS em água residuária, respectivamente. A Hipótese A foi refutada uma vez que as remoções de LAS em EGSB-BA-Etapa II (76%) e EGSB-BNA-Etapa I (78%) foram similares (ambas com água residuária). A remoção de LAS foi maior quando foi adicionada água residuária (EGSB-BA-Etapa II-76%) do que com LAS Padrão (EGSB-BA-Etapa I-63%). A Hipótese B foi aceita, uma vez que a alimentação do EGSB apenas com água residuária de lavanderia (CLE 1,0 mg LAS.gSTV-1.d-1) mais bicarbonato de sódio resultou em remoções do surfactante de 93%, ou seja, 15-17% maior que nos reatores suplementados com meio sintético (EGSB-BA Etapa II e EGSB-BNA Etapa I). Na Etapa III verificou-se diminuição da remoção em 30%. A Hipótese C foi aceita uma vez que se notou 20% de aumento na remoção de LAS quando comparado com reator não suplementado com Fe(III) (EGSB-Fe - 84,3% e EGSB-BA Etapa I - 63,5%). A Hipótese D foi refutada, uma vez que embora tenha sido obtida alta remoção de LAS (91,2%), esta não foi acompanhada pela redução férrica. Por meio do DGGE (domínio Bactéria) notou-se estratificação microbiana ao longo do reator na Etapa III (Hipótese B), provavelmente, em função do tamanho do grânulo que variou ao longo do reator. Por meio do sequenciamento massivo identificou-se bactérias semelhantes à Geobacter na amostra proveniente do reator EGSBFe da Hipótese C (17% da abundância relativa), portanto, as condições impostas favoreceram esse gênero. Fato este não observado para o reator EGSB-Fe-Ag.Lav. da Hipótese D. A comparação da análise filogenética das bactérias para os diferentes reatores permitiu identificar gêneros em comum relacionados com a degradação de LAS, a saber: Desulfobulbus, Geobacter, Syntrophorhabdus, Sporomusa, Comamonas, Holophaga, Mycobacterium, Pseudomonas, Stenotrophomonas e Synergistes. / This study evaluated four hypotheses about the removal of linear alkylbenzene sulfonate (LAS) in EGSB reactor (expanded granular sludge bed) fed sometimes with commercial laundry wastewater, sometimes with synthetic medium more Standard LAS, with and without Fe(III) influent supplementation. Therefore, in all hypotheses were used an EGSB reactor (1.4 L) with a hydraulic retention time (HRT) of 36 h, mesophilic condition (30°C) and load specific LAS (CLE) ranging from 1,0 to 2,7 mgLAS.gSTV-1.d-1. DGGE and massive sequencing of 16S rRNA gene (454-pyrosequencing and Ion Torrent platform) were used for microbial characterization. Regarding the Hypothesis A, it was evaluated the effect of biomass pre-adaptation for removal of LAS in wastewater. Then, the EGSBBA (adapted biomass) had a previous step with standard LAS and synthetic medium (Phase I), followed by Stage II with wastewater; and EGSB-BNA (not adapted biomass) had single step and feeding directly with wastewater. Regarding the Hypothesis B, it was evaluated the effect of synthetic medium supplementation in the removal of LAS in wastewater. Then, the EGSB-Ag.Lav was fed only with wastewater and sodium bicarbonate with two CLE (Stage II - 1,0 e Stage III - 2,7 mg LAS.gSTV-1.d-1). Regarding the Hypothesis C and D, it was evaluated the effect of Fe(III) supplementation in the removal of standard LAS and LAS in wastewater, respectively. The Hypothesis A was refuted since the LAS removal in EGSB-BA-Stage II (76%) and EGSB-BNA-Step I (78%) were similar (both with wastewater). The LAS removal was highest when wastewater was added (EGSB-BA-Stage-II 76%) than with standard LAS (EGSB-BAStage- I 63%). The Hypothesis B was accepted, since the feed of the EGSB only with wastewater from laundry (CLE 1,0 mg LAS.gSTV-1.d-1) more sodium bicarbonate resulted in removal of 93% of surfactant, in other words, 15-17% higher than in the reactors supplemented with synthetic medium (EGSB-BA Stage II e EGSB-BNA Stage I). In the Stage III, there was a decrease by 30% of LAS removal. The Hypothesis C was accepted, since there was an increase of 20% in the removal of LAS as compared to unsupplemented reactor with Fe (III) (EGSB-Fe - 84,3% e EGSB-BA Stage I - 63,5%). The Hypothesis D was refuted since although high LAS removal was obtained (91,2%), this was not accompanied by ferric reduction. By means of DGGE (Bacteria domain) was noted a microbial stratification along the reactor in the Stage III (Hypothesis B), probably in function of granule size along the reactor. By means of massive sequencing were identified bacteria similar to Geobacter in the sample from the reactor EGSB-Fe Hypothesis C (relative abundance 17%), therefore, the conditions favored this genre. This fact was not observed in the reactor EGSB-Fe-Ag.Lav. hypothesis D. A comparison of phylogenetic analysis of bacteria for different reactors allowed to identify common genera related to LAS degradation, namely: Desulfobulbus, Geobacter, Syntrophorhabdus, Sporomusa, Comamonas, Holophaga, Mycobacterium, Pseudomonas, Stenotrophomonas and Synergistes.

Nesse trabalho avaliaram-se quatro hipóteses sobre a remoção do alquilbenzeno linear sulfonado (LAS) em reator EGSB (expanded granular sludge bed) alimentado ora com água residuária de lavanderia comercial, ora como meio sintético acrescido de LAS Padrão, com e sem suplementação de Fe(III) afluente. Para tanto, em todas as hipóteses utilizou-se reator EGSB (1,4 L) com tempo de detenção hidráulica (TDH) de 36h, condição mesofílica (30ºC) e carga de LAS específica aplicada (CLEA) variando de 1,0 - 2,7 mgLAS.gSTV-1.d-1. DGGE e sequenciamento massivo do gene rRNA 16S (Plataforma 454-Pirosequenciamento e Ion Torrent) foram utilizados para caracterização microbiana. Em relação à Hipótese A avaliou-se o efeito da adaptação prévia da biomassa na remoção do LAS em água residuária. Para tanto, o EGSB-BA (biomassa adaptada) teve uma etapa prévia com LAS padrão e meio sintético (Etapa I), seguida da Etapa II com água residuária; e o EGSB-BNA (biomassa não adaptada) teve etapa única e alimentação diretamente com água residuária. Para a Hipótese B avaliou-se o efeito da suplementação com meio sintético na remoção de LAS em água residuária. Para tanto, o EGSB-Ag.Lav foi alimentado apenas com água residuária e bicarbonato de sódio e duas CLE (Etapa II - 1,0 e Etapa III - 2,7 mg LAS.gSTV-1.d-1). Em relação às Hipóteses C e D, avaliou-se o efeito da suplementação de Fe(III) na remoção de LAS Padrão em meio sintético e LAS em água residuária, respectivamente. A Hipótese A foi refutada uma vez que as remoções de LAS em EGSB-BA-Etapa II (76%) e EGSB-BNA-Etapa I (78%) foram similares (ambas com água residuária). A remoção de LAS foi maior quando foi adicionada água residuária (EGSB-BA-Etapa II-76%) do que com LAS Padrão (EGSB-BA-Etapa I-63%). A Hipótese B foi aceita, uma vez que a alimentação do EGSB apenas com água residuária de lavanderia (CLE 1,0 mg LAS.gSTV-1.d-1) mais bicarbonato de sódio resultou em remoções do surfactante de 93%, ou seja, 15-17% maior que nos reatores suplementados com meio sintético (EGSB-BA Etapa II e EGSB-BNA Etapa I). Na Etapa III verificou-se diminuição da remoção em 30%. A Hipótese C foi aceita uma vez que se notou 20% de aumento na remoção de LAS quando comparado com reator não suplementado com Fe(III) (EGSB-Fe - 84,3% e EGSB-BA Etapa I - 63,5%). A Hipótese D foi refutada, uma vez que embora tenha sido obtida alta remoção de LAS (91,2%), esta não foi acompanhada pela redução férrica. Por meio do DGGE (domínio Bactéria) notou-se estratificação microbiana ao longo do reator na Etapa III (Hipótese B), provavelmente, em função do tamanho do grânulo que variou ao longo do reator. Por meio do sequenciamento massivo identificou-se bactérias semelhantes à Geobacter na amostra proveniente do reator EGSBFe da Hipótese C (17% da abundância relativa), portanto, as condições impostas favoreceram esse gênero. Fato este não observado para o reator EGSB-Fe-Ag.Lav. da Hipótese D. A comparação da análise filogenética das bactérias para os diferentes reatores permitiu identificar gêneros em comum relacionados com a degradação de LAS, a saber: Desulfobulbus, Geobacter, Syntrophorhabdus, Sporomusa, Comamonas, Holophaga, Mycobacterium, Pseudomonas, Stenotrophomonas e Synergistes. / This study evaluated four hypotheses about the removal of linear alkylbenzene sulfonate (LAS) in EGSB reactor (expanded granular sludge bed) fed sometimes with commercial laundry wastewater, sometimes with synthetic medium more Standard LAS, with and without Fe(III) influent supplementation. Therefore, in all hypotheses were used an EGSB reactor (1.4 L) with a hydraulic retention time (HRT) of 36 h, mesophilic condition (30°C) and load specific LAS (CLE) ranging from 1,0 to 2,7 mgLAS.gSTV-1.d-1. DGGE and massive sequencing of 16S rRNA gene (454-pyrosequencing and Ion Torrent platform) were used for microbial characterization. Regarding the Hypothesis A, it was evaluated the effect of biomass pre-adaptation for removal of LAS in wastewater. Then, the EGSBBA (adapted biomass) had a previous step with standard LAS and synthetic medium (Phase I), followed by Stage II with wastewater; and EGSB-BNA (not adapted biomass) had single step and feeding directly with wastewater. Regarding the Hypothesis B, it was evaluated the effect of synthetic medium supplementation in the removal of LAS in wastewater. Then, the EGSB-Ag.Lav was fed only with wastewater and sodium bicarbonate with two CLE (Stage II - 1,0 e Stage III - 2,7 mg LAS.gSTV-1.d-1). Regarding the Hypothesis C and D, it was evaluated the effect of Fe(III) supplementation in the removal of standard LAS and LAS in wastewater, respectively. The Hypothesis A was refuted since the LAS removal in EGSB-BA-Stage II (76%) and EGSB-BNA-Step I (78%) were similar (both with wastewater). The LAS removal was highest when wastewater was added (EGSB-BA-Stage-II 76%) than with standard LAS (EGSB-BAStage- I 63%). The Hypothesis B was accepted, since the feed of the EGSB only with wastewater from laundry (CLE 1,0 mg LAS.gSTV-1.d-1) more sodium bicarbonate resulted in removal of 93% of surfactant, in other words, 15-17% higher than in the reactors supplemented with synthetic medium (EGSB-BA Stage II e EGSB-BNA Stage I). In the Stage III, there was a decrease by 30% of LAS removal. The Hypothesis C was accepted, since there was an increase of 20% in the removal of LAS as compared to unsupplemented reactor with Fe (III) (EGSB-Fe - 84,3% e EGSB-BA Stage I - 63,5%). The Hypothesis D was refuted since although high LAS removal was obtained (91,2%), this was not accompanied by ferric reduction. By means of DGGE (Bacteria domain) was noted a microbial stratification along the reactor in the Stage III (Hypothesis B), probably in function of granule size along the reactor. By means of massive sequencing were identified bacteria similar to Geobacter in the sample from the reactor EGSB-Fe Hypothesis C (relative abundance 17%), therefore, the conditions favored this genre. This fact was not observed in the reactor EGSB-Fe-Ag.Lav. hypothesis D. A comparison of phylogenetic analysis of bacteria for different reactors allowed to identify common genera related to LAS degradation, namely: Desulfobulbus, Geobacter, Syntrophorhabdus, Sporomusa, Comamonas, Holophaga, Mycobacterium, Pseudomonas, Stenotrophomonas and Synergistes.

Abstract Disturbance may shift microbial communities from one state to another. However, species differ in their ecological characteristics and their abilities to withstand disturbance. No single species or individuals of a species exist alone, but they are parts of complex interaction networks including species above- and belowground. In boreal and subarctic forests, almost all plants and a high number of fungi form mycorrhizas at the plant roots. In mycorrhiza, the fungal partner harvests nutrients for the host plant and, in return, gains carbon from the plant. In general, these common associations benefit both partners, but as heterotrophs, fungi are dependent on carbon photosynthesized by plants, whereas plants can survive alone as autotrophs. In addition to mycorrhizal fungi, also other fungi, such as endophytes, saprotrophs and pathogens, live in and on plant roots. This thesis concerns the impacts of disturbance on fungi living in plant roots and in soil near the roots. I hypothesized that i) root-associated fungal (RAF) and soil fungal communities and colonization types change after disturbance, that ii) the observed shifts relate to disturbance intensity and that iii) they co-occur with changes in soil conditions and vegetation. Changes in RAF were studied as changes in root fungal colonization, or in fungal community composition. The latter were detected with next-generation sequencing methods. The responses of RAF to disturbance seemed to be context dependent and related to sources of fungal communities (e.g. soil, RAF networks), environmental conditions (e.g. soil pH and nutrients) and host performance. It seems that abundances of those RAF species, which are present in the roots first (priority effect), may be increased by disturbance. Research produced new information related to ecological roles of the genera Phialocephala and Meliniomyces. Altogether, the results indicate connections between both abiotic and biotic environments and RAF, and host species viability and RAF. / Tiivistelmä Häiriöt voivat siirtää eliöyhteisön tilasta toiseen. Lajien ominaisuudet ja häiriönsietokyvyt eroavat toisistaan. Mikään laji tai yksilö ei elä yksin, vaan lajit ovat osa maan ylä- ja alapuolelle ulottuvia monimutkaisia vuorovaikutusverkostoja. Boreaalisissa ja subarktisissa metsissä lähes kaikki kasvit ja useat sienet muodostavat sienijuuren eli mykorritsan. Mykorritsassa sieniosakas hankkii isäntäkasville ravinteita ja saa vastavuoroisesti kasvilta hiiltä. Tavallisesti nämä vuorovaikutussuhteet hyödyttävät molempia sienijuuren osakkaita, mutta toisenvaraisina (heterotrofeina) sienet ovat riippuvaisia kasvien yhteyttämästä hiilestä, kun taas tuottajina (autotrofeina) kasvit voivat elää itsenäisesti. Mykorritsasienten lisäksi kasvien juurissa elää yleisesti myös muita sieniä kuten endofyyttejä, saprotrofeja ja patogeeneja. Tämä väitöskirja käsittelee häiriön vaikutuksia sieniin, jotka elävät kasvien juurissa ja juuria ympäröivässä maassa. Hypoteesieni mukaan i) juurissa ja maassa elävien sienten yhteisöt ja kolonisaatiotyypit muuttuvat häiriön jälkeen, ii) muutokset liittyvät häiriön voimakkuuteen ja iii) muutokset tapahtuvat samanaikaisesti maan olosuhteiden ja kasvillisuuden muutoksien kanssa. Juurissa elävien sienten esiintymisen muutokset tutkittiin sienten kolonisaation tai yhteisörakenteen muutoksina. Sieniyhteisöt selvitettiin NGS-menetelmien avulla. Juurissa elävien sienten vasteet häiriöön vaikuttavat olevan tilannesidonnaisia ja liittyvän sienilajien lähteisiin (esim. maa, juurisieniverkostot), ympäristömuuttujiin (esim. maan pH, ravinteet) ja isäntäkasvin menestymiseen. Häiriö voi vahvistaa juurissa ensimmäisenä läsnä olevien sienilajien menestymistä (prioriteettivaikutus). Uutta tietoa tuotettiin Phialocephala ja Meliniomyces –sienisukujen ekologiasta, jota tunnetaan huonosti. Kaiken kaikkiaan, tulokset osoittavat yhteydet sekä elottoman ja elollisen ympäristön ja juurten sieniyhteisön että isäntäkasvin elinkyvyn ja juurten sieniyhteisön välillä.

Venous thromboembolism (VTE) is a common cardiovascular disease that frequently recurs and is associated with significant numbers of death annually. The influence of the hereditary risk factors is not yet firmly established but twin and family studies suggest that heritability is about 50%. Several genetic risk factors have been identified by genomeHwide association studies (GWAS) but they do not explain all of the missing heritability of VTE. NextHgeneration sequencing (NGS) has revolutionized the genetic analysis of disease and has been used to discover the genes underlying unsolved Mendelian disorders. It has also been used to identify rare alleles which may help explain the missing heritability for complex diseases. The study population of this study consisted of 32 randomly chosen VTE patients from the MATSHstudy (Malmö Thrombophilia Study). The seventeen genes that in earlier studies have been shown to be associated with VTE were examined and the identified VTEHrelated mutations were compared to the general population. The results showed that Ion TorrentHsequencing effectively provided good coverage and read depth in all of the sequenced genes. Optimization of the primer panels resulted in higher and more balanced coverage and the quality of the results in this study was on an overall high level. A total of 215 variants were detected – 62 in exons, 8 in splice and 145 in introns. One Mendelian mutation was detected in PROC and rare variants were found in F2 and FGG. The most common risk factor (F5 Leiden) was highly enriched with 25% in this study compared to 3% in a background population. / Venös tromboembolism (VTE) är en vanlig, ofta återkommande, kardiovaskulär sjukdom som associeras med åtskilliga dödsfall årligen. De ärftliga riskfaktorernas påverkan är inte fullständigt kartlagda ännu men tvillingH och familjestudier antyder att ärftligheten kan vara runt 50%. Ett flertal genetiska riskfaktorer har identifierats genom genome$wide association studies (GWAS) men de förklarar inte hela den saknade ärftlighetskomponenten för VTE. NästaHgenerationsHsekvensering (NGS) har revolutionerat den genetiska sjukdomsanalysen och har använts för att upptäcka de gener som ligger bakom tidigare olösta Mendelska sjukdomstillstånd. Man har även använt NGS för att identifiera rara alleler som kan hjälpa till att förklara de saknade ärftlighetskomponenterna för nedärvning av komplexa sjukdomar. Studiepopulationen I den här undersökningen utgjordes av 32 slumpmässigt utvalda VTEHpatienter från Malmö Thrombophilia Study (MATS). De sjutton gener som I tidigare studier har visat sig vara associerade med VTE undersöktes och de identifierade VTEHrelaterade mutationerna jämfördes med en normalpopulation. Resultaten visade att Ion TorrentHsekvensering ger bra täckningsgrad och läsdjup i alla de sekvenserade generna. Optimering av primerHpanelerna resulterade i en mer balanserad täckningsgrad och resultatkvaliteten i den här studien var på en generellt hög nivå. Totalt 215 varianter detekterades – 62 i exon, 8 i splice och 145 i introner. En Mendelsk mutation detekterades I PROC och rara varianter hittades i F2 och FGG. Den starkaste och vanligaste riskfaktorn (F5 Leiden) var högt anrikad i den här studien med 25% jämfört med 3% i en bakgrundspopulation.

Epigenetics are stable heritable traits that are not a result of the DNA sequence. Epigenetic modification of DNA cytosine plays a role in development and disease. The covalent bonding of a methyl group or a hydroxymethyl group to the 5-carbon of cytosine epigenetically modifies cytosine to 5-methylcytosine or 5-hydroxymethylcytosine. Upon PCR amplification, the bisulfite treatment of DNA converts unmethylated cytosine to thymine, while 5-methylcytosine, 5-hydroxymethylcytosine, and other bases remain unchanged. The resulting sequences can be mapped to a reference genome; however, this can be challenging due to sequencing technology complexity, low sequence complexity, and biases and errors introduced with bisulfite treatment. Once the short read is mapped, the identity of 5-methylcytosine or 5-hydroxymethylcytosine can be determined by comparing the mapped read to the aligned reference genome. Bisulfite DNA read mapping is characterized by mapping performance as low as 40%. This research improves bisulfite short read mapping quality. First, reads generated from the bisulfite hairpin PCR protocol are used to study mapping failure and solutions. A read may not map to the genome; it may map uniquely, or it may map to multiple locations. Sequence complexity correlates with these mapping categories. The hairpin protocol allows for a recovery, in some cases, of the original untreated read, and mapping this read with the regular read mapper Bowtie2 improved mapper performance by 10%. New bisulfite read mapping software called BisPin was created that calls BFAST (BLAT-like Fast Accurate Search Tool) for mapping. BisPin resolves ambiguously mapped reads with a rescoring strategy, which yields a statistically significant improvement. BFAST-Gap for Ion Torrent reads was developed, since Ion Torrent machines are less expensive than Illumina machines and since Ion Torrent reads are longer. There are few mappers for Ion Torrent data. BFAST-Gap uses homopolymer run length for contextual gap penalty functions, since homopolymer runs cause errors in Ion Torrent reads. In conjunction with BisPin, this software performed well on real and simulated bisulfite Ion Torrent data and Illumina data. InfoTrim, a read trimmer with an entropy term, was developed with competitive results. / Ph. D.

Les enceintes de confinement des centrales nucléaires sont conçues pour assurer des propriétés de confinement et d'étanchéité précises en situations d'usage normal et en cas d'accident nucléaire, afin d'éviter la dissémination de radioéléments dans l'environnement. Ces enceintes étant construites en béton, la maîtrise de l'évaluation de la perméabilité du béton et de ses évolutions sous contraintes permettrait d'évaluer les débits de fuite susceptibles d'intervenir dans le temps sous certaines sollicitations. Jusqu'aujourd'hui, il existe plusieurs techniques de mesure de la perméabilité et ces techniques aboutissent à des résultats différents pour une même éprouvette de béton. La première étude que nous avons réalisée a été donc de proposer une normalisation de la mesure de la perméabilité : cette normalisation a abouti à la détermination d'une perméabilité caractéristique du béton et indépendante de la technique de mesure. Parallèlement à cette démarche, nous avons aussi proposé d'évaluer la perméabilité du béton à l'aide d'observables du Contrôle Non Destructif comme la permittivité et la résistivité électrique. Les résultats obtenus montrent la possibilité d'estimer la perméabilité dans les conditions du béton sur site. La deuxième étude réalisée est relative à la maîtrise de la perméabilité sous contraintes. Au laboratoire, nous avons étudié la perméabilité d'éprouvettes en béton de différentes tailles dans diverses conditions de séchage, de sollicitation thermique, d'endommagements mécanique et couplés. Nous avons ainsi pu établir des modèles perméabilité-endommagements en fonction de chaque source d'endommagement. La troisième étude réalisé porte sur la transposition des résultats de laboratoire au site, à travers l'utilisation de maquette d'enceinte nucléaire de dimensions plus importantes et représentatives de l'ouvrage réel (VeRCoRs à l'échelle 1/3). L'ensemble des résultats des deux premières études ont été mise à contribution et ont permis d'aboutir à des calculs des débits de fuite et des Temps d'Etablissement du Régime Permanent d'Ecoulement cohérents avec les hypothèses de calculs. / The building reactor of the nuclear power plants are designed to provide precise containment and sealing properties in normal use situations and in the event of a nuclear accident, to prevent the spread of radioelements in the environment. Since these enclosures are made of concrete, controlling the evaluation of the permeability of concrete and its evolutions under stress would make it possible to evaluate the leakage rates that may occur over time under certain conditions. Until today, there are several techniques for measuring permeability and these techniques lead to different results for the same concrete specimen. The first study we carried out was therefore to propose a standardization of the permeability measurement: this standardization resulted in the determination of a characteristic permeability of concrete and independent of the measurement technique. In parallel with this approach, we also proposed to evaluate the permeability of concrete using observables from Non-Destructive Testing such as permittivity and electrical resistivity. The results obtained show the possibility of estimating the permeability under concrete conditions on site. The second study carried out relates to the control of the permeability under constraints. In the laboratory, we investigated the permeability of concrete specimens of different sizes under various conditions of drying, thermal stress, mechanical and coupled damage. We could establish permeability-damage models according to each source of damage. The third study carried out relates to the transposition from laboratory results to the site, using nuclear power plants mock-up of larger dimensions and representative of the actual structure (VeRCoRs at scale 1/3). All the results of the first two studies have been used and have led to calculations of leak rates and Time to Reach Steady State (TRSS) consistent with the calculation assumptions.

Depuis la fin du Petit Age Glaciaire, les glaciers du massif du Mont-Blanc se retirent et libèrent ainsi d’importants volumes de sédiments. La fourniture sédimentaire grossière, qui est l’un des éléments de contrôle principaux de l’activité géomorphologique des torrents proglaciaires, peut être profondément modifiée. Dans le contexte de la vallée de Chamonix, où la pression urbaine est très forte, l’accélération du retrait glaciaire soulève des questionnements de la part à la fois des gestionnaires et des scientifiques sur l’évolution des risques et de la gestion des flux solides.L’objectif de ce travail de thèse est d’étudier le couplage sédimentaire entre les espaces libérés des glaces et les torrents jusqu’en fond de vallée, avec un double niveau de réponse. Le premier niveau permet de comprendre les trajectoires géomorphologiques des systèmes glacio-torrentiels depuis la fin du Petit Age Glaciaire et à l’échelle de la vallée. Il est étayé par une analyse géomorphologique et par l’étude de l’évolution du réseau hydrographique, qui s’appuie sur une modélisation et sur de nombreux documents d’archive. Cette étape souligne la diminution du potentiel du système torrentiel à remobiliser des sources sédimentaires. En conséquence, l’activité des torrents a fortement baissée depuis 150 ans. La seconde approche concerne l’étude des dynamiques récentes basée sur la comparaison diachronique de MNT LiDAR à haute résolution. Elle se focalise sur les trois systèmes glacio-torrentiels les plus grands de la vallée (Argentière, Mer de Glace et Bossons) dont les activités morphogènes ont pu être interprétées sous le prisme de crues d’occurrence décennale survenues en août 2014. Cette partie montre l’efficacité des processus de stockage sédimentaire au sein même des espaces désenglacés, ainsi que l’importance du forçage humain sur la morphogénèse torrentielle qui prime désormais sur l’influence du retrait glaciaire. L’état de la fourniture sédimentaire résulte actuellement de l’impact des différentes infrastructures, telles que les captages sous-glaciaires ou l’autoroute d’accès au Tunnel du Mont Blanc.Nos résultats montrent donc une première phase de diminution de l’activité torrentielle, principalement causée par le retrait des glaciers de 1850 à 1950, puis les conséquences pression des activités humaines sur les évolutions hydromorphologiques. La baisse de la torrentialité est toutefois ponctuée de quelques évènements, comme la crue du septembre 1920 sur l’Arveyron de la Mer de Glace, dont nous avons reconstitué les conséquences géomorphologiques. Malgré leur intensité, les effets de ces crues restent néanmoins relativement limités à l’aval immédiat des glaciers.Contrairement donc aux hypothèses initialement soulevées, le retrait glaciaire n’implique pas une augmentation de la fourniture sédimentaire, mais au contraire une diminution des apports du fait de la déconnexion entre les espaces désenglacés et les systèmes torrentiels. / Since the end of Little Ice Age, glaciers of the Mont blanc massif are retreating and large sediment volume are releasing from the ice. Thus, sediment supply, which is a main control factor of the proglacial stream geomorphic activity, could be deeply modified. Therefore, the consequences on the sediment fluxes and the risk management need to be understanding because of the present acceleration of glacier retreat and urban sprawl in the Chamonix valley. The goal of this thesis is to study the sediment coupling between stream systems and areas released by glaciers. A first approach allows understanding the geomorphic trajectory of proglacial system at the Chamonix scale since the end of the Little Ice Age. Our results supported by modelling and archives analyses, show the decreasing capacity of the hydrographic pattern to be connected with sediment sources. The second approach is lead on the LiDAR DEM multi-temporal comparison. It focuses on the three main proglacial systems: Argentière, Mer de Glace and Bossons, whom occurred a decennal flood during the 2014 summer. This part of our study underlines the storage efficiency into deglaciated areas and the increasing role of anthropic forcing. Present sediment yield to proglacial stream is leaded by facilities such as the Mont Blanc Tunnel substructure or the subglacial harnessing. Our results show that the decreasing geomorphic activity of proglacial stream in the Chamonix valley is mainly caused by glacier retreat from the early 18th Century to the middle 20th century, then it is leaded by the increasing human pressure. Nevertheless, the fall of stream activity is punctuated by extreme events, such as the 1920 flood in the Arveyron of the Mer de Glace that we reconstructed the geomorphic consequences. Despite their intensity, effects of that king of events are limited close to the glacier downstream. Contrary to our initial hypotheses, glacier retreat in the Chamonix Valley, is not follow by a geomorphic crisis of proglacial streams because of the disconnectivity between sediment released from the ice and stream systems.

This Master´s thesis is concentrated theoretically and practically on negative effects of rain. The aim of this work is to analyse and evaluate the erosion and drainage conditions in detail and then make proposal of erosion and flood protection. All of this refers to three land register areas (Sklenov, Rychaltice, Fryčovice) in Ondřejnice catchment area. Model analysis using ArcGIS, DesQ-MaxQ and others combined with USLE evaluation method and field exploration were used to achieve goals of this work. Proposals of erosion and torrent control were made to protect the population, nature and landscape.

This diploma thesis deals with design of soil erosion control measures and flood control measures in the cadastral area of Palkovice. The request for construction came from the village Palkovice. It sits at the foothills of Beskydy with a very sloping terrain. In addition, there are larger soil complexes without any erosion control measures, which leads to degradation and reduction of soil yields. The introduction summarizes desired objectives. Then thesis deals with the description and analysis of the current state of the village and its solution. The solution of technical measures is depicted in the situation and elaborated in more detail. The drawings are enclosed in attachment. The conclusion summarizes the content of the work, achieved goals and benefits.