An influence of variations in human genome is perceptible at a first glance on human itself to see differences between the individuals and entire populations. Also, behavior or probability of certain diseases are influenced in large way by differences at genome's level. This work presents methods for detecting variations in the human genome that were developed after an arose of the second-generation sequencing technologies. A new tool that combines read pair and split read methods, with information about a depth of coverage was also designed and implemented. The tool was tested on simulated and real data and compared with a reference outputs.
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:236397 |
| Date | January 2013 |
| Creators | Beluský, Tomáš |
| Contributors | Vogel, Ivan, Martínek, Tomáš |
| Publisher | Vysoké učení technické v Brně. Fakulta informačních technologií |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/masterThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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