Analysis of human mitochondrial DNA pathogenicity scores

Background and objective

Mitochondrial DNA (mtDNA) variants are known to contribute to a variety of human diseases, particularly those related to energy metabolism, neurodegeneration, and aging. Understanding the pathogenicity of these variants is essential for interpreting their clinical relevance. Several computational scores have been developed to predict the pathogenic potential of mtDNA mutations, but their strengths and limitations vary. The main objective of this bachelor thesis is to systematically evaluate and compare existing mitochondrial pathogenicity scores. The candidate will aim to identify the strengths and weaknesses of different mtDNA scoring systems and explore potential improvements or combinations of scores for better variant interpretation.

Methods

The candidate will perform a comparative analysis using statistical software, preferentially in R. Based on curated mtDNA variant datasets the candidate will perform the analysis from different levels:

• Applying various pathogenicity scoring tools to the datasets
• Conducting statistical comparisons, evaluations and visualizations
• Interpreting results in the context of mitochondrial disease relevance

Requirements

• Knowledge of statistical tools such as R or alternatively SPSS.
• Basic understanding and interest in mitochondria
• Reliable, independent working style

Time frame

Start possible from fall 2025 onwards (e.g. also early 2026), time allocation to be agreed upon.

Supervision

The thesis will be supervised by Dr. Hansi Weissensteiner at the Institute of Genetic Epidemiology.

Application

If you are interested, please send a brief informal application with your resume and current transcript by email to:

• hansi.weissensteiner@i-med.ac.at
• +43 512 9003 70564
• Institute of Genetic Epidemiology, Schöpfstraße 3

I am also happy to offer a preliminary consultation (non-binding) to discuss the topic and requirements together.

Contact

Hansi Weissensteiner, Dr.techn.
Senior Scientist

+43 512 9003 70564
hansi.weissensteiner@i-med.ac.at