MEB713 - STRUCTURE and FORMATION MECHANISMS of GENOME VARIATIONS
Course Name | Code | Semester | Theory (hours/week) |
Application (hours/week) |
Credit | ECTS |
---|---|---|---|---|---|---|
STRUCTURE and FORMATION MECHANISMS of GENOME VARIATIONS | MEB713 | 2nd Semester | 3 | 0 | 3 | 7 |
Prequisites | Limited to a quota of 10 students | |||||
Course language | Turkish | |||||
Course type | Elective | |||||
Mode of Delivery | Face-to-Face | |||||
Learning and teaching strategies | Lecture Discussion Team/Group Work Other: Project Design, Presentation | |||||
Instructor (s) | Prof. Pervin DİNÇER | |||||
Course objective | After completing this course, students will learn the effects of genome variation in molecular pathology and they will gain knowledge about the mechanisms of genome variations. | |||||
Learning outcomes |
| |||||
Course Content | In this course, the lectures will be given on classification of genome variations such as small or large, rare or common, pathogenic or nonpathogenic, somatic or germ line, inherited or de novo; SNV, indel, CNV, de novo and other different genome variations and their mechanisms, nomenclature of the genome variations and databases related to genome variation, consortia (HapMap, 2000 genome, ENCODE, etc.), Within the scope of this course, students will discuss five review or research articles. In addition, a project will be designed by the students as a group work related to the processes needed to show the effects of different types of DNA variations. | |||||
References | 1. Cooper DN, Krawczak M, Human Gene Mutation, Bios Scientific Publishers, 1993. 2. Brown TA Genomes, Bios Scientific Publishers, 1999. 3. Strachan T, Tead AP, Human Molecular Genetics, Garland Science, Taylor and Francis Group, 2011. |
Course outline weekly
Weeks | Topics |
---|---|
Week 1 | Description/definition and classification of genomic variations/SNV (single nucleotide variation), CNV (copy number variations) and indels (insertions deletions variations) |
Week 2 | SNVs and formation mechanisms |
Week 3 | Paper discussion (Presentation) |
Week 4 | CNVs, and formation mechanisms |
Week 5 | Paper discussion (Presentation) |
Week 6 | Paper discussion (Presentation) |
Week 7 | Indel variation and formation mechanisms |
Week 8 | Paper discussion (Presentation) |
Week 9 | De novo mutations |
Week 10 | Paper discussion (Presentation) |
Week 11 | Naming properties of the genome variations in the literature and related databases |
Week 12 | Genome Consortia (OMIM, HUGO, DbSNP, HapMap, 2000 genome, GWAS, ENCODE, etc.) |
Week 13 | Genome Consortia (OMIM, HUGO, DbSNP, HapMap, 2000 genome, GWAS, ENCODE, etc.) |
Week 14 | Project presentations |
Week 15 | Preparation for the final exam |
Week 16 | Final exam |
Assesment methods
Course activities | Number | Percentage |
---|---|---|
Attendance | 0 | 0 |
Laboratory | 0 | 0 |
Application | 0 | 0 |
Field activities | 0 | 0 |
Specific practical training | 0 | 0 |
Assignments | 0 | 0 |
Presentation | 5 | 20 |
Project | 1 | 30 |
Seminar | 0 | 0 |
Midterms | 0 | 0 |
Final exam | 1 | 50 |
Total | 100 | |
Percentage of semester activities contributing grade succes | 6 | 50 |
Percentage of final exam contributing grade succes | 1 | 50 |
Total | 100 |
WORKLOAD AND ECTS CALCULATION
Activities | Number | Duration (hour) | Total Work Load |
---|---|---|---|
Course Duration (x14) | 14 | 3 | 42 |
Laboratory | 0 | 0 | 0 |
Application | 0 | 0 | 0 |
Specific practical training | 0 | 0 | 0 |
Field activities | 0 | 0 | 0 |
Study Hours Out of Class (Preliminary work, reinforcement, ect) | 14 | 8 | 112 |
Presentation / Seminar Preparation | 5 | 5 | 25 |
Project | 1 | 12 | 12 |
Homework assignment | 0 | 0 | 0 |
Midterms (Study duration) | 0 | 0 | 0 |
Final Exam (Study duration) | 1 | 15 | 15 |
Total Workload | 35 | 43 | 206 |
Matrix Of The Course Learning Outcomes Versus Program Outcomes
D.9. Key Learning Outcomes | Contrubition level* | ||||
---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | |
1. To gain knowledge about general features, development and pathogenesis of allergic diseases. | |||||
2. To conceive the interaction between innate and adaptive immunities in allergic inflammation and to evaluate their contribution to disease pathogenesis. | |||||
3. To learn cell types and their characteristics and roles in allergic diseases. | |||||
4. To have information concerning genetic basis of allergic diseases and gen-enviroment interactions. | X | ||||
5. To obtain knowledge on the legal regulations and ethical approaches directed towards clinical studies, and to comply with these ethical principles, being aware of their importance at an individual level and for society | |||||
6. To follow new developments and Technologies in the field of allergic inflammation, to know the equipment and material used in this field and to be able to use basic molecular and cell biology techniques. | |||||
7. To be able to use information technology effectively in life for professional use. | |||||
8. To discuss at a national and international level, topics related to allergic diseases, to possess the knowledge and the capability to solve problems and to master a foreign language, in such a way that this knowledge will serve as principles of life long learning. | |||||
9. To present individually or as a team opinions in a scientific environment on theoretical and practical topics, to discuss systematically with specialists, to defend and question norms, to assess the results in the framework of quality processing. | |||||
10. To analyse research data obtained in allergic diseases using statistic methods, to report according to evidence or present in a national/international scientific field. | |||||
11. To know the working standards of an allergic research laboratory, to implement the rules of data acquisition and scientific reporting, ethics and biosafety. |
*1 Lowest, 2 Low, 3 Average, 4 High, 5 Highest