Course catalogue doctoral education - HT20

  • Application can be done between 2020-04-15 and 2020-05-15
Application closed
Title Rare disease genomics
Course number 2981
Programme Cell Biology and Genetics
Language English
Credits 1.5
Date 2018-11-19 -- 2018-11-23
Responsible KI department Department of Molecular Medicine and Surgery
Specific entry requirements
Purpose of the course The course is aimed primarily at doctoral students in biomedical and human genetic research, and provides interactive training in the latest massive parallel sequencing techniques and data-analysis tools.
Intended learning outcomes After the course, the participants will be familiar with high throughput genomic technologies and their application to the study of rare genetic diseases. The students will be able to use publicly available bioinformatics tools and databases to perform downstream bioinformatics analysis and evaluate candidate variants. The students will also become familiar with design of experimental follow-up of genetic variants and genotype-phenotype correlation studies as well as ethical issues arising from large-scale sequencing studies.
Contents of the course This is a course aimed at students actively involved or planning genetic analysis of rare (Mendelian) diseases. The course is also appropriate for those working with complex diseases and cancer whose projects involve high throughput DNA sequencing.
The focus of the course is the use of DNA-sequencing to understand the genetic basis of rare genetic diseases. Within the overall theme of clinical and experimental approaches to diagnostics of rare genetic diseases, particular attention will be paid to annotation and classification of different types of genetic variants. The course will cover the use of different in-silico pathogenicity scores, phenotype ontology terms, and population and family data for variant interpretation. The course will cover experimental strategies to validate genetic findings. The course will also cover current clinical best practice guidelines concerning ethical issues such as report of incidental findings and acquisition of informed consent.
Teaching and learning activities The course consists of lectures, discussions, and hands-on computer-based bioinformatics analysis. A journal-club seminar held by the student will take place at the end of the course. Students are required to bring their laptops.
Compulsory elements The lectures, discussions, seminars and hands-on bioinformatics tutorials are compulsory. Absence from compulsory parts is compensated according to the instructions from the course leader.
Examination It will be assessed whether each individual doctoral student has reached all the learning outcomes of the course during active participation in the bioinformatics tutorials as well as during the journal-club seminars.
Literature and other teaching material Relevant recent journal articles and websites.
Number of students 15 - 20
Selection of students Selection will be based on 1) the relevance of the course syllabus for the applicant's doctoral project (according to written motivation), 2) date for registration as a doctoral student (priority given to earlier registration date)
More information
Additional course leader The course director is Anna Lindstrand ( The course co-director is Ann Nordgren ( Contact persons Fulya Taylan ( and Bianca Tesi (
Latest course evaluation Course evaluation report
Course responsible Anna Lindstrand
Department of Molecular Medicine and Surgery
Contact person Fulya Taylan
Institutionen för molekylär medicin och kirurgi

Bianca Tesi
Institutionen för molekylär medicin och kirurgi

Ann Nordgren
Institutionen för molekylär medicin och kirurgi