Ontology-based representation and generation of workflows for micro-task human-machine computation

Doctoral Program in Computer Science

3D representation of the urban evolution of Braga using the cityengine tool

The morphological evolution of the city of Braga has been the subject of several studies focusing on different urban areas in different periods. Using the accumulated knowledge provided by the available archaeological, historical and iconographic data of Braga, from the Roman times to the nineteenth century, we intend to present a working methodology for 3D representation of urban areas and its evolution, using the CityEngine ESRI tool. Different types of graphic and cartographic data will be integrated in an archaeological information system for the characterization of urban buildings. Linking this information system to the rules of characterization of urban spaces through the CityEngine tool, we can create the 3D urban spaces and their changes. The building characterization rules include several parameters of architectural elements that can be dynamically changed according the latest information. This methodology will be applied to the best known areas within of the city allowing the creation of different and dynamic layouts. Considerations about the concepts, challenges and constraints of using the CityEngine tool for recording and representing urban evolution knowledge will be discussed.

Fine time scaling of purifying selection on human nonsynonymous mtDNA mutations based on the worldwide population tree and mother-child pairs

A high-resolution mtDNA phylogenetic tree allowed us to look backward in time to investigate purifying selection. Purifying selection was very strong in the last 2,500 years, continuously eliminating pathogenic mutations back until the end of the Younger Dryas (∼11,000 years ago), when a large population expansion likely relaxed selection pressure. This was preceded by a phase of stable selection until another relaxation occurred in the out-of-Africa migration. Demography and selection are closely related: expansions led to relaxation of selection and higher pathogenicity mutations significantly decreased the growth of descendants. The only detectible positive selection was the recurrence of highly pathogenic nonsynonymous mutations (m.3394T>C-m.3397A>G-m.3398T>C) at interior branches of the tree, preventing the formation of a dinucleotide STR (TATATA) in the MT-ND1 gene. At the most recent time scale in 124 mother-children transmissions, purifying selection was detectable through the loss of mtDNA variants with high predicted pathogenicity. A few haplogroup-defining sites were also heteroplasmic, agreeing with a significant propensity in 349 positions in the phylogenetic tree to revert back to the ancestral variant. This nonrandom mutation property explains the observation of heteroplasmic mutations at some haplogroup-defining sites in sequencing datasets, which may not indicate poor quality as has been claimed.

Ontological representation of tumor-node-metastasis classification and an ontology-driven classifier: a study on colorectal cancer

Dissertação de mestrado integrado em Engenharia Biomédica (área de especialização em Informática Médica)