No / Although the application of sequencing-by-synthesis techniques to DNA extracted from bones has revolutionized the study of ancient DNA, it has been plagued by large fractions of contaminating environmental DNA. The genetic analyses of hair shafts could be a solution: We present 10 previously unexamined Siberian mammoth (Mammuthus primigenius) mitochondrial genomes, sequenced with up to 48-fold coverage. The observed levels of damage-derived sequencing errors were lower than those observed in previously published frozen bone samples, even though one of the specimens was >50,000 14C years old and another had been stored for 200 years at room temperature. The method therefore sets the stage for molecular-genetic analysis of museum collections.

Hajj, the annual Islamic pilgrimage to Makkah, Saudi Arabia, is a unique mass gathering event that brings more than 2 million individuals from around the world. Several public health considerations, such as the spread of infectious diseases, must be taken into account with this large temporary influx of people. Gastrointestinal diseases, such as diarrhea, are common at Hajj, yet little is known about the etiology. The human gut microbiome, collection of organisms residing within the intestinal tract, has been under intense study recently, since next generation DNA sequencing technologies allow for extensive surveying of genetic material found in complex biological samples, such as those containing many different organisms. Thus, using 16S rRNA and metagenomic shotgun sequencing, we have characterized the gut microbiome of over 612 pilgrims with and without diarrhea. Several metadata factors, such as hospitalization and different comorbidities, were found to have significant effects on the overall gut microbiome composition. Metagenomic shotgun sequencing efforts revealed the presence of antimicrobial resistance genes originating from disparate regions from around the world. This study provides a snapshot of information concerning the health status of the gut microbiome of Hajj pilgrims and provides more context to the investigation of how to best prepare for mass gathering events.

Archaeological dental calculus represents a depositional environment that entraps oral microbes, and debris of dietary, environmental, and cultural material that entered the mouth throughout the host’s life. Hence, they represent valuable archives of information about the host’s lifestyle, health, and environment. The aim of this study was to identify if the farming transition and its’ associated change in diet composition, may have influenced species composition in the oral cavity. To shed some light into the evolution of ancient oral microbiomes from Africa, 3 novel Iron Age dental calculus metagenomes together with a comparative dataset of 18 archaeological dental calculus metagenomes from North African Upper Palaeolithic, Later Stone Age, Iron Age, and 18th-19th century populations where analysed. Shotgun sequencing data was used to reconstruct 21 oral metagenomes from the past 15,000 years. This study found an oral microbiome that has been maintained from the Upper Palaeolithic (North Africa) to the 19th Century. However, closer examination to the relative abundance of three keystone species of the subgingival plaque, portray a chronological evolution that reflects that of its host during the major dietary and cultural transition that occurred during the farming revolution in the Iron Age.

Moderní výzkum v environmentální mikrobiologii využívá k popisu mikrobiálních komunit genomická data, především sekvenaci DNA. Oblast, která zkoumá veškerý genetický materiál přítomný v environmentálním vzorku, se nazývá metagenomika. Tato doktorská práce se zabývá metagenomikou z pohledu bioinformatiky, která je nenahraditelná při výpočetním zpracování dat. V teoretické části práce jsou popsány dva základní přístupy metagenomiky, včetně jejich základních principů a slabin. První přístup, založený na cíleném sekvenování, je dobře rozpracovanou oblastí s velkou řadou bioinformatických technik. Přesto mohou být metody pro porovnávání vzorků z několika prostředí podstatně vylepšeny. Přístup představený v této práci používá unikátní transformaci dat do podoby bipartitního grafu, kde je jedna partita tvořena taxony a druhá vzorky, případně různými prostředími. Takový graf plně reflektuje kvalitativní i kvantitativní složení analyzované mikrobiální sítě. Umožňuje masivní redukci dat pro jednoduché vizualizace bez negativních vlivů na automatickou detekci komunit, která dokáže odhalit shluky podobných vzorků a jejich typických mikrobů. Druhý přístup využívá sekvenace celého metagenomu. Tato strategie je novější a příslušející bioinformatické nástroje jsou méně propracované. Hlavní výzvou přitom zůstává rychlá klasifikace sekvencí, v metagenomice označovaná jako „binning“. Metoda představená v této práci využívá přístupu zpracování genomických signálů. Tato unikátní metodologie byla navržena na základě podrobné analýzy redundance genetické informace uložené v genomických signálech. Využívá transformace znakových sekvencí do několika variant fázových signálů. Navíc umožňuje přímé zpracování dat ze sekvenace nanopórem v podobě nativních proudových signálů.

Inflammatory Bowel Disease (IBD) is a chronic and incurable condition that is increasing inprevalence across the globe. This illness consist of two forms: Crohn’s Disease (CD) andUlcerative Colitis (UC). CD is characterised by a patch inflammation pattern across the gut anda multitude of different factors, such as diet. Contemporary research has found a link betweengut dysbiosis and the development of IBD, suggesting that the microbial flora colonising the guthave a vital part to play in the development of CD.This paper aims to identify taxa associated with CD. This is done through the application ofmachine learning algorithms as standard univariate statistical methods fail to apply in the highlyinterdependent domain of the gut microbiome. The compositionally of the data and externalfactors influencing variance in the data will be taken into account.After applying a Center Log ratio transformation (CLR) to a MetaPhlAn3 taxonomic profile andusing a random forest classifier the following five taxa were identified as the most important inthe association to CD: Ruminococcaceae bacterium, Akkermansia muciniphila, Streptococcusparasanguinis, Flavonifractor plautii and Bifidobacterium bifidum.