Postgraduate Course: Analysis and Reporting of Next Generation Sequencing (MCLM11058)
Course Outline
| School | Deanery of Molecular, Genetic and Population Health Sciences |
College | College of Medicine and Veterinary Medicine |
| Credit level (Normal year taken) | SCQF Level 11 (Postgraduate) |
Availability | Not available to visiting students |
| SCQF Credits | 20 |
ECTS Credits | 10 |
| Summary | Aims of the course:
1. To provide a detailed explanation of the techniques used for next generation sequencing analysis and the bioinformatic interpretation of clinical NGS data.
2. To enable students to develop the skills required to implement NGS pipelines into NHS clinical laboratory practice in both germ line genetics and somatic analysis of cancer. |
| Course description |
This course aims to provide students with a detailed understanding of the technology behind next generation sequencing, the requirements for sample handling and the parameters that determine quality of sequence generated. The course will also cover the analysis of data for mutation detection and copy number variation using a range of bioinformatics approaches. Finally the course will look at the issues of somatic mutation analysis in cancer when compared to germ line mutation analysis. 50% of this module will be around development of a real NGS clinical service assessed by submission of an extended report.
The course will be structured into the following topics:
1. Introduction to the course
2. The different technologies for next generation sequencing ¿ and their strengths and weaknesses
3. Bioinformatic approaches to analysing NGS data
4. Comparing NGS for tumour analysis with NGS from germ line mutation detection
4. Variant reporting and integrating NGS within a clinical service
5. Practical implementation of NGS
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Entry Requirements (not applicable to Visiting Students)
| Pre-requisites |
|
Co-requisites | |
| Prohibited Combinations | |
Other requirements | None |
Course Delivery Information
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| Academic year 2017/18, Not available to visiting students (SS1)
|
Quota: None |
| Course Start |
Flexible |
Timetable |
Timetable |
| Learning and Teaching activities (Further Info) |
Total Hours:
200
(
Lecture Hours 4,
Seminar/Tutorial Hours 8,
Online Activities 8,
Feedback/Feedforward Hours 14,
Formative Assessment Hours 3,
Programme Level Learning and Teaching Hours 4,
Directed Learning and Independent Learning Hours
159 )
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| Assessment (Further Info) |
Written Exam
0 %,
Coursework
100 %,
Practical Exam
0 %
|
| Additional Information (Assessment) |
Written Exam - 0%«br /»
Coursework - 100%«br /»
Practical Exam - 0%«br /»
|
| Feedback |
Students will receive formative or summative feedback on all assessed pieces of work. |
| No Exam Information |
Learning Outcomes
On completion of this course, the student will be able to:
- Critically evaluate the role of exome sequencing in a diagnostic setting
- Develop original and creative approaches to establishing a new NGS assay as part of a clinical service
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Reading List
The theory and practice of Molecular Pathology and Genomic Medicine is a very rapidly advancing field, and no single textbook is appropriate or sufficiently up to date. The course will draw on key established textbooks in the field, but will also use review papers and key research papers to ensure the most up to date learning for students. Example texts are given below.
Strachan T, Goodship J and Chinnery P. Genetics and Genomics in Medicine. Garland Science 2014. Print ISBN-10: 0815344805
Strachan T and Read A. Human Molecular Genetics 4th Ed. Garland Science 2010. Print ISBN-10: 0815341490
Additional papers from
Nature Genetics
American journal of human genetics
Journal of medical genetics
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Additional Information
| Graduate Attributes and Skills |
Not entered |
| Keywords | Molecular Pathology,Genetics,Genomic Medicine |
Contacts
| Course organiser | Dr Amy Hansen
Tel: (0131 6)51 8757
Email: Amy.Hansen@ed.ac.uk |
Course secretary | Mrs Alison Kyte
Tel: (0131 6)51 1041
Email: Alison.Kyte@igmm.ed.ac.uk |
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