Logotyp: till Uppsala universitets webbplats

The organization of living beings is complex. Science uses modeling in order to gain a deeper understanding, and to be able to manipulate the processes of living organisms. To this purpose, I used and developed computational tools to investigate and model different relevant biological phenomena. 

In paper I, I utilized whole-genome data from wild and domesticated European rabbit (Oryctolagus cuniculus sp.) populations to identify segregating insertions of endogenous retroviruses and compare their variation along the host phylogeny and domestication history. The results from this study highlight the importance of genomic modeling beyond reference organisms and reference individuals, and provide deep insights regarding strategies for variant analyses in host population comparative genomics. In paper IV, I studied the process of exaptation of foreign genetic elements at broad-scale by observing the presence and characteristics of retroviral env gene, syncytin, across vertebrates. I searched a library of more than 150 chromosome-length assemblies covering 17 taxonomical orders for syncytin homologs, where I identified and syntenically aligned over 300 loci insertions, including not previously known insertions. Additionally, three-dimensional structures of the recovered sequences were predicted using AlphaFold2. Phylogenomics analyses suggest a complex dynamic of multiple retroviral insertions at different time points with sequence conservation specific to clades that share a similar histo-physiological placental type.

In paper II, I expanded the scope to encompass translational medicine by developing an unsupervised machine learning methodology for detecting anomalies in biomedical signals, MindReader, which I applied primarily to electroencephalogram. In paper III, I developed a hidden Markov model implementation that includes a hypothesis generator for stream time-domain signals, which is used as a dependency for paper II. The work in this thesis substantiates that a combination of biological knowledge, cutting-edge technology, and robust algorithmic design constitute the primordial factors for scientific advancement.