Population and Forensic Genetic Applications of Mitochondrial DNA

PhD defence by Floor Anna Josephine Claessens

Assessment Committee

Professor Chiara Villa, Department of Forensic Medicine, University of Copenhagen (Chairperson)
Dr David Ballard, King’s Forensics, Department of Analytical, Environmental and Forensic Sciences, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College London
Associate professor Leonor Gusmão, DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ)

Supervisors

Associate Professor Vania Alves E Silva Pereira
Associate Professor Walther Parson
Senior Researcher Claus Børsting

Department

Department of Forensic Medicine

Graduate Programme

Oral Sciences, Forensic Medicine and Bioanthropology

Place

The defence is conducted as a hybrid defence.

To attend the defence in person:
Building: Teilum building, Room: Conference room 6th floor,
Frederik V's Vej 11, 2100, Copenhagen Ø

To attend the defence online:
Please follow the link to attend the defence online:

https://ucph-ku.zoom.us/j/68405551667?pwd=M6rFXQqPP1GESAFgOZWIdUHoYfLjwA.1

MeetingID, if relevant: 684 0555 1667
Password, if relevant: 568087

Email address to gain access to the thesis: floor.claessens@sund.ku.dk.
You will either receive a copy of the thesis or be informed where you can read a physical copy.
Recipients of copies of the thesis are not allowed to share or distribute it due to copyright compliance.

Short description of the thesis

Mitochondrial DNA (mtDNA) can provide valuable forensic information when conventional nuclear DNA analysis is not feasible (e.g., in hair samples or other biological material containing little or degraded nuclear DNA). Technological advances now allow analysis of the whole mitochondrial genome (mtGenome), creating new opportunities but also requiring improved interpretation of mtDNA evidence, reliable analytical methods, and more reference data. This PhD thesis addresses these challenges by investigating mtDNA variation across tissues, expanding population reference data, validating whole mtGenome sequencing for hair samples, and developing bioinformatic tools to analyse mtDNA from shotgun sequencing. Together, these findings support the use of mtDNA analysis in forensic casework.