Meistaravörn við verkfræðideild - Sveinn M. Ásgeirsson
Interactive Pedigree Plotter for Genetic Analysis
Friday, June 7th at 10:00, Sveinn M. Ásgeirsson will defend his 30 ECTS thesis in MSc Biomedical Engineering. The title of the thesis is Interactive Pedigree Plotter for Genetic Analysis and the lecture will be held in room M104. All are welcome.
- Title: Interactive Pedigree Plotter for Genetic Analysis
- Student: Sveinn M. Ásgeirsson
- Supervisors:
Guðbjörn F. Jónsson, DeCode
Bjarni V. Halldórsson, Reykjavik University and DeCode - Examiner: Páll Melsted, University of Iceland and DeCode
Summary - project description
Diseases and traits are often caused by mutations in the genome. A very useful way to try to figure out how these mutations occur and are inherited in families is by looking at a pedigree. A pedigree is a diagram that depicts the biological relationship between an organism and its ancestors and other relatives, the organism being most commonly a human. It is often used to look at the genetic transmission of genetic disorders. The purpose of a pedigree is to have a visually easy-to-read chart that depicts a certain characteristic or disorder in a family. It can be used for a physical characteristic like having a widow‘s peak or attached earlobes, or a genetic disorder like colorblindness or Huntington‘s disease. With technological advances in genetics last two decades such as moving from mostly microsatellites to chip genotyping and whole genome sequencing, researchers have much more data volume to work with, which in turn allows them to study rare variants that might have a very low penetrance in a family. In order to narrow down on a certain (rare) variant, the scientist may have to analyse hundreds or even thousands of descendants just to realise the genetic transmission of the variant.
This thesis reviews an all-in-one pedigree plotter, Interactive Pedigree Plotter (IPP), designed by the author, which is created to handle those cases where the pedigrees get big, while still remaining well-functioning, robust and interactive. The interactiveness of the plotter allows the user to, for example, collapse/expand, move and delete certain parts of the descendant tree; a feature that becomes more important with increasing pedigree size. The IPP also offers various attribute features such as arbitrary text attributes and multiple symbols, giving the user good tools to distinguish individuals from one another as well as being able to have multiple phenotypes, e.g. several cancer types. The thesis ends with a review of other similar pedigree plotters that are available, and then compares them to IPP.
