Human Genome Biology and Evolution

Course manual 2022/2023

Course content

This course is aimed at 1st and 2nd year MSc students in the Biomedical/(Neuro)Biological Sciences with an interest in human genomics, genomic evolution of the human species and the genetics of human (neurological) diseases. In this course the student will become familiar with current concepts and challenges in these exciting fields and state of the art experimental techniques used to address these issues. Topics such as human genome variation, non-coding DNA, comparative biology, epigenetics, the genomic impact of transposable elements and genomics of disease susceptibility will be covered. In the first week, the current concepts of human genome biology and primate genomic evolution is laid out in lectures, guided by literature that the students will read in the afternoon literature sessions. In the second week, during lectures, workshops and practicals, we will deal with genomic conservation and divergence (variation) as a source for human speciation and explore which factors contribute to the ongoing evolution of our genome. Practicals will involve state of the art Minion Nanopore high throughput sequencing techniques to address genomic variation in the genomes of HGBE participants. In the third week, we will discuss and explore which recent evolutionary changes have contributed to our species and to which extent some of these changes may have made humans more susceptible to human diseases. The course is not heavy on bioinformatics and no prior experience on this aspect is required.

Study materials

Literature

• Literature for self-study will be provided during the course

Syllabus

• Syllabus will be provided to successful applicants one week before the course starts

Practical training material

• Practical training material or links to relevant websites will be provided during the course

Software

• publically available bioinformatics web-tools will be used

Objectives

• explain current concepts and challenges in primate evolutionary genomics
• analyze and interpret functional (non-coding) elements in the human genome
• dissect the evolutionary history of basically any gene or genomic locus
• learn about and discuss recent literature on exciting evolutionary topics
• philosophize about the impact of primate genomic evolution on the evolution of human-specific traits and diseases.

Teaching methods

• Lecture
• Seminar
• Laptop seminar
• Presentation/symposium
• Self-study
• Computer lab session/practical training

Learning activities

Attendance

Requirements of the programme concerning attendance (OER-B):

1. Attendance during practical components exercises is mandatory.

Additional requirements for this course:

Students are expected to show up to lectures, workshops, practicals and laptop lectures, and the students are expected to prepare for the lectures through self-study, preparing for the assignments and reading literature that the students are pointed to during the lectures. In addition, the students are expected to actively take part in the in class discussions. This aspect  will be part of the evaluation. Each component of the course is interlinked with other components, and therefore attendance to all classes is required.

Assessment

Fraud and plagiarism

The 'Regulations governing fraud and plagiarism for UvA students' applies to this course. This will be monitored carefully. Upon suspicion of fraud or plagiarism the Examinations Board of the programme will be informed. For the 'Regulations governing fraud and plagiarism for UvA students' see: www.student.uva.nl

Course structure

Timetable

The schedule for this course is published on DataNose.

Additional information

All lectures / practicals are in English. For more information, please contact the coordinator f.m.j.jacobs@uva.nl

Contact information

Coordinator

• dr. F.M.J. Jacobs