Forensic Genetics and Massively Parallel Sequencing

Course content

The summer course is a three-week course together with a written assignment and will provide a comprehensive insight into forensic genetics and a broad introduction into massively parallel sequencing (MPS) work and data analysis with focus on forensic relevant topics.

The topics include:

  • MPS of forensic genetic markers (SNPs and STRs).
  • Molecular autopsy (sudden cardiac death).
  • Complete mitochondria sequencing.
  • Prediction of the suspect’s externally visible characteristics and ancestry.
  • Age determination using methylation patterns (metDNA).
  • Tissue identification

 

The first week is self-study and is carried out off-campus, the next two weeks are on-campus and the final written assignment will be performed individually after finishing the course. The time spend on the course is divided between focusing on forensic genetics, and exploring MPS with focus of the use in forensic genetics.


Week 1:

The self-study in the first week includes review of papers that will give an overview of forensic genetics. Also, command line tutorials, including Linux, R, and MPS data analysis programs will be part of the self-study week.

 

Week 2:

During the second week, forensic geneticists will explain the use of DNA-analysis in crime case work and paternity and relationship testing and share their latest research within forensic genetics.

Topics in the second week include:

  • Crime scene investigation and trace samples.
  • DNA markers (STRs, SNPs and haploid makers - mitochondria and y-chromosome).
  • DNA profiling.
  • Weight of the evidence.
  • Paternity and relationship testing.
  • Future forensic investigations (prediction of the suspect’s externally visible characteristics, ancestry, age, and tissue identification).

 

Week 3:

The third week is dedicated to MPS with focus on data analysis and computer exercises. The exercises are supplemented by lectures by invited researchers that will share their latest research using MPS methods. Topics may include:

  • MPS of forensic markers (STR and SNPs).
  • Molecular autopsy (whole genome sequencing and whole exome sequencing).
  • Sudden cardiac death (whole transcriptome sequencing, targeted gene sequencing, miRNA and metDNA).
  • Ancestry informative markers.
  • The genetics of eye, skin, and hair colours.
  • Age estimation using metDNA.
  • Haploid markers.

 

Written assignment

During the third week, the students will asked to write an individual assignment (3-4 pages) based on the MPS project carried out. Assignment submission two weeks after the last week on campus and the final evaluation will be based on attendance in class and the written assignment.

Education

MSc in Human Biology - elective course

Learning outcome

After completing the course the student is expected to:

Knowledge:

  • Explain genetic investigations in relation to forensic genetics.
  • Know the principles for calculating weight of the evidence using likelihoods for forensic DNA profiles and relationship testing.
  • Explain MPS and application hereof in a forensic genetic context.

 

Skills:

  • Explain the general laboratory workflow for forensic DNA profiling.
  • Evaluate forensic DNA profiles in relation to crime cases and human identification cases.
  • Explain the use of forensic relevant markers, including STRs, SNPs, haploid markers, mRNAs, and metDNA.
  • Explain the general laboratory workflow of MPS experiments.
  • Explain the general steps in MPS data analysis.
  • Be able to use selected bioinformatics tools for MPS data analysis.
  • Interpret forensic genetic MPS data.

 

Competencies:

  • Be able to critically analyse and interpret forensic genetic data.
  • Understand the latest research and advantages within forensic genetic relevant methods and topics.
  • Understand MPS work and data analysis.
  • Carry out MPS data analysis of forensic relevant data.

The topics are taught through lectures, data exercises, article scrutiny, case studies, and written assignments.

The self-study in the first week includes review of papers that will give an overview of forensic genetics. Also command line tutorials, including Linux, R, and MPS data analysis programs will be part of the self-study week.

Throughout the second week, students will work in groups and prepare a presentation based upon a scientific research paper.

During the third week, the participants will work in groups and prepare presentations based upon the MPS exercises.

At the end of the second and third week, oral presentations in groups are carried out.

Within two weeks after the finish of the course, each student have to hand in a written assignment based on the MPS project carried out in week 3.

Review and research articles from academic journals.

Examples of relevant literature:

  • N. Morling (2004). Forensic Genetics. The Lancet. Volume 364, Special Issue, December 2004, Pages 10–11. https://doi.org/10.1016/S0140-6736(04)17621-6
  • C. Børsting and N. Morling (2015). Next generation sequencing and its applications in forensic genetics. FSI Genetics. Volume 18, September 2015, Pages 78-89. https://doi.org/10.1016/j.fsigen.2015.02.002

It is beneficial, but not required, to have basic experience using command line editing in Linux and R.

Bachelor’s degree in medicine, biochemistry, biology, bioinformatics, biotechnology, pharmaceutics, exercise and sport sciences, or a corresponding bachelor’s degree within the field of health sciences or natural sciences. Knowledge within basic genetics is necessary as the lectures will be based on this.

Continuous feedback during the course of the semester
ECTS
7,5 ECTS
Type of assessment
Course participation, .
Active course participation of 75%
Participation in oral group presentations
Submission of individual written assignment
Aid
All aids allowed
Marking scale
passed/not passed
Censorship form
No external censorship
One internal examiner
Criteria for exam assessment

To obtain the assessment passed the student must demonstrate the following abilities at a sufficient level:


Knowledge:

  • Explain genetic investigations in relation to forensic genetics.
  • Know the principles for calculating weight of the evidence using likelihoods for forensic DNA profiles and relationship testing.
  • Explain MPS and application hereof in a forensic genetic context.

 

Skills:

  • Explain the general laboratory workflow for forensic DNA profiling.
  • Evaluate forensic DNA profiles in relation to crime cases and human identification cases.
  • Explain the use of forensic relevant markers, including STRs, SNPs, mRNAs, and metDNA.
  • Explain the general laboratory workflow of MPS experiments.
  • Explain the general steps in MPS data analysis.
  • Be able to use selected bioinformatics tools for MPS data analysis.
  • Interpret forensic genetic MPS data.

 

Competencies:

  • Be able to critically analyse and interpret forensic genetic data.
  • Understand the latest research and advantages within forensic genetic relevant methods and topics.
  • Understand MPS work and data analysis.
  • Carry out MPS data analysis of forensic relevant data.

Short courses / Summer school

  • Category
  • Hours
  • Class Instruction
  • 30
  • Preparation
  • 86
  • Practical exercises
  • 25
  • Exercises
  • 30
  • Project work
  • 35
  • English
  • 206