Mixed Materials
In pursuit of gene variation of consequence to humanhealth and disease
| Τίτλος: | In pursuit of gene variation of consequence to humanhealth and disease |
|---|---|
| Additional Titles: | From the invention of Sanger sequencing, to the birth of current high-throughput and long-read methodologies, sequencing technology has becomean vital tool for scientific research. Biologists released the first version of thehuman genome in 2001, and continued to refine it over the following yearsuntil the complete and final genome sequence was published in 2022. Inparallel, the 1000 Genome project has revealed the extent of human geneticvariation and polymorphisms, filling a gap in our knowledge about the diver-sity of the human mutational landscape. Transcriptome sequencing providesa means to study the changes in gene expression patterns and related signal-ing pathways affected by diseases and other biological processes. With theadvancement of computer science, machine learning has been introduced intothe field of biological and medical research. Using ML approaches scientistshope to find the biological signals and patterns hidden within massive datasets.The first chapter of this thesis provides an overview of the human genome,transcriptome research and different machine learning algorithms, includingtheir applications in biological and medical research.The last chapter centers around two projects I worked on during my Ph.D.In the first project, simply called DNA prediction, we employed a Centralmodel, a Markov model and a bi-directional Markov model to estimate theprobability of the occurrence of four nucleotide types at a site based on its con-text sequence - the input for these models were the human reference genome.The results show that the base prediction of the human genome was above50% on average, which should be compared to random guessing (25%). Weapplied the predicted results to SNP databases, and found that the alternativealleles showed higher probabilities than reference bases for somatic SNPs. Inaddition, we developed a substitution model to calculate the base mutability.Here, we found that the α matrix relies on a much smaller context sequences,and i |
| Συγγραφείς: | Liang, Yuhu |
| Πηγή: | Liang , Y 2023 , ' In pursuit of gene variation of consequence to humanhealth and disease ' . |
| Στοιχεία εκδότη: | Department of Computer Science, Faculty of Science, University of Copenhagen 2023 |
| Τύπος εγγράφου: | Mixed materials |
| Όροι ευρετηρίου: | other |
| Σύνδεσμος: | |
| Διαθεσιμότητα: | Open access content. Open access content info:eu-repo/semantics/closedAccess |
| Σημείωση: | English |
| Other Numbers: | DAV oai:pure.atira.dk:publications/eb6fac81-f0ac-48a2-865d-9db6c28100e3 1479122996 |
| Πηγή συνεισφοράς: | UNIV OF COPENHAGEN From OAIster®, provided by the OCLC Cooperative. |
| Αριθμός Καταχώρησης: | edsoai.on1479122996 |
| Βάση Δεδομένων: | OAIster |
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