Understanding Your Genome – An Introduction to Human Genome Analysis and Interpretation (Sommersemester 2021)
Dozent:
Dr. med. Henrike Heyne
(Data Analytics and Computational Statistics)
,
Dr. med. Henrike Heyne
(Data Analytics and Computational Statistics)
,
Susanne Ibing
(Data Analytics and Computational Statistics)
,
Tamara Slosarek
(Digital Health - Personalized Medicine)
Allgemeine Information
- Semesterwochenstunden: 4
- ECTS: 6
- Benotet:
Ja
- Einschreibefrist: 18.03.2021 - 09.04.2021
- Lehrform: Seminar
- Belegungsart: Wahlpflichtmodul
- Lehrsprache: Englisch
- Maximale Teilnehmerzahl: 20
Studiengänge, Modulgruppen & Module
- DICR: Digitalization of Clinical and Research Processes
- HPI-DICR-C Concepts and Methods
- DICR: Digitalization of Clinical and Research Processes
- HPI-DICR-T Technologies and Tools
- DICR: Digitalization of Clinical and Research Processes
- HPI-DICR-S Specialization
- APAD: Acquisition, Processing and Analysis of Health Data
- HPI-APAD-C Concepts and Methods
- APAD: Acquisition, Processing and Analysis of Health Data
- HPI-APAD-T Technologies and Tools
- APAD: Acquisition, Processing and Analysis of Health Data
- HPI-APAD-S Specialization
- SCAD: Scalable Computing and Algorithms for Digital Health
- HPI-SCAD-C Concepts and Methods
- SCAD: Scalable Computing and Algorithms for Digital Health
- HPI-SCAD-T Technologies and Tools
- SCAD: Scalable Computing and Algorithms for Digital Health
- HPI-SCAD-S Specialization
Beschreibung
Mandatory Pre-course meeting
04/07/21 @ 3:15pm-4pm via Zoom
General information
This course is designed for Digital Health master students at the Digital Engineering Faculty of the Hasso Plattner Institute (HPI) and the University of Potsdam organized by the HPI Digital Health Center (DHC), Research Group – Digital Health and Personalized Medicine.
Description
The purpose of the course “Analyze Your Personal Genome” is to introduce students to the ethical, biological and mathematical aspects of using personal genome information in health care, medical practice and biomedical research.
We will focus on practical issues using publicly available individual genomic data and other genomic data at population level to learn about the basic concepts of statistical genomics. Students will have the opportunity to explore a selection of their own genomic data to understand the predictive character of genomic variants and their significance for diagnosis, prognosis and therapy in medicine.
The content of the course covers genotyping techniques, bioinformatics and statistical basics including the linking of the collected data with public available databases and the interpretation of sequence variation. We will discuss scientific issues such as determining the genetic lineage of individuals, learning from genomes about the migration and evolution of the human population, and how natural selection has shaped human genomes. Furthermore, the course will discuss medical aspects: how to detect disease-causing genetic mutations, how to predict diseases such as diabetes based on genomic data, and how genetic information can be used to recommend clinical treatments. Additionally, we will talk about direct-to-consumer tests commonly used to inform about non-medical, general wellness traits (such as athletic ability, hair color, earwax type, wine taste preferences, -for example), or help individuals explore their genetic ancestry. Practical exercises will form the core of the course.
Voraussetzungen
Digital Health master students
Leistungserfassung
Termine
Pre-course meeting: 04/07/21 @ 15:15pm-16:30 via Zoom
https://zoom.us/j/95814827894?pwd=b1JsQ0hWZld3RE1HYzQ3cjhRYmdXQT09
Purpose: to talk about course organization and share general information about the course.
Please write an e-mail to understanding-your-genome(at)lists.myhpi.de, we will share call-in details for the meeting.
Introductory class: 04/14/21 @ 15:15pm-18:30 via Zoom
Lecturer: Henrike Heyne, PhD
Course Objectives: An introduction to genetic influences on health and disease. An introduction to ethical, legal and social implications of genetic testing including disease prediction concerning patients, healthy individuals, researchers and clinicians.
On completion of the course students will get the opportunity to donate DNA for their personal genetic testing.
This introductory course is mandatory for participating in the main part of the course. Your decision whether or not to take part in the personal genetic testing component of the course will not affect your ability to participate in the course.
Basic concepts of molecular genetics: 05/05/21 @ 15:15pm-18:30 via Zoom
Lecturer: Claudia Schurmann, PhD
Course Objectives: Understand the basics concepts of human molecular genetics, including:
- Basic principles of nucleic acid structure and gene expression
- Fundamentals of cells and chromosomes
- Patterns of inheritance
- An overview of human genetic variation
- Human population genetics
- Human evolution
Population genetics: 05/12/21 @ 15:15pm-18:30 via Zoom
Lecturer: Henrike Heyne, PhD
Course Objectives: An introduction to how population history shapes genetic variation and diversity in human genomes today. We will also discuss the importance of population genetics for genomic medicine including how eurocentric genetic research may increase existing health disparities.
Ancestry: 05/19/21 @ 15:15pm-18:30 via Zoom
Lecturer: Till Andlauer, PhD
Pharmacogenomics: 06/02/21 @ 15:15pm-18:30 via Zoom
Lecturer: Aniwaa Owusu-Obeng, PharmD
Course Objectives: At the end of this lecture, students will be able to:
- Describe the basic principles and concepts in pharmacogenomics
- To explore the potential clinical benefits of pharmacogenomics
- Identify and review literature and clinical guidelines on common PGx examples
- Review and address relevant patient cases
- Discuss strategies used to implement pharmacogenomics into clinical practice
Genomic Medicine: 06/16/21 @ 15:15pm-18:30 via Zoom
Lecturer: Noura Abul-Husn, MD, PhD
Course Objectives: Gain a deeper understanding of Medical Genetics
Genome Wide Association Studies: 06/30/21 @ 15:15pm-18:30 via Zoom
Lecturers:
Claudia Schurmann, PhD
Henrike Heyne, PhD
Barbara Schormair, PhD
Course Objectives: An introduction to GWAS - understanding the concepts underlying GWAS design & GWAS quality control.
Genotyping & Sequencing Techniques: 07/14/21 @ 15:15pm-18:30 via Zoom
Lecturer: Per Hoffmann, PhD
Block course: August 2-4 + 9-10 2021
August 2-4: On campus, HE 51/52
August 9-10: online
Schedule
| Weekday | Start | End | Type | Topic |
Monday
8/2/2021 | 10:00 | 10:10 | Organisation | Time to fill out the course questionnaire |
| 10:10 | 10:30 | Seminar | Introduction PLINK I |
| 10:30 | 12:00 | Practical work | Hands-on exercises using OpenSNP data set |
| 13:00 | 13:30 | Lecture | Introduction to PLINK II |
| 13:30 | 15:30 | Practical work | Hands-on exercises using OpenSNP data set |
Tuesday
8/3/2021 |
| 10:00 | 10:45 | Lecture | Overview genomic databases / tools and data resources used in annotating and interpreting a personal genome |
| 10:45 | 12:00 | Practical work | Hands-on work with genomic databases |
| 13:00 | 14:30 | Lecture | Interpretation of variants & risk (Dr Andlauer ) |
| 14:30 | 15:30 | Lecture & Practical work | Hands on Work: Exploration of selected personal genomic data, Genomic Risk Scores |
Wednesday
8/4/2021 | 10:00 | 10:45 | Lecture | Variant interpretation |
| 10:45 | 15:30 | Practical work | Hands on exercise: Exploration and interpretation of selected association results / selected personal genomic data |
Monday
8/9/2021 |
| 13:00 | 18:00 | Seminar | Student presentations & course review |
Tuesday
8/10/2021 | tbd | tbd | Seminar | Panel discussion |
Panel discussion on Tuesday scheduled either from 9:00-13:00 or 13:-16:00.
The final exam will take place on Friday 08/13/21 at 9 AM (online).
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