SHUA13025U International Summer Course in Forensic Genetics and Massively Parallel Sequencing

Volume 2019/2020
Education

MSc in Human Biology

Content

The summer course is a three week course 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),
  • sudden cardiac death (molecular autopsy),
  • complete mitochondria sequencing,
  • prediction of physical traits and ancestry,
  • prenatal non-invasive paternity testing,
  • and age determination using methylation patterns.


The first week is self-study and is carried out off-campus. The last two weeks are on-campus and roughly divided into one week focusing on forensic genetics, and one week exploring MPS and the use hereof 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 and SNPs)
  • DNA profiling
  • Weight of the evidence
  • Paternity and relationship testing
  • Future forensic investigations (prediction of physical traits, ancestry and 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 researcher that will share their latest research using MPS methods. Topics 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)
  • Prenatal non-invasive testing
  • Ancestry informative markers
  • The genetics of eye, skin, and hair colours
  • Age estimation using metDNA
  • Tissue and body fluids identification
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.
  • 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.

Review and research articles from academic journals.

Examples of relevant literature:

  • N. Molring (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
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.
It is beneficial, but not required, to have basic experience using command line editing in Linux and R.
The topics are taught through lectures, data exercises, article scrutiny, and case studies.

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.
  • Category
  • Hours
  • Class Exercises
  • 30
  • Class Instruction
  • 30
  • Practical exercises
  • 25
  • Preparation
  • 50
  • Total
  • 135
Credit
5 ECTS
Type of assessment
Course participation
Oral examination
Active course participation of 75%
Participation in oral group presentations.
Exam registration requirements

Mandatory elements: Participation in oral group presentations.

Aid
All aids allowed
Marking scale
passed/not passed
Censorship form
No external censorship
One internal examiner
Re-exam

If the student does not meet the requirement for passing the exam, the student needs to hand in a written assignment within topics selected by the course responsible in order to pass the exam.

Criteria for exam assesment

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.
  • 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.