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DRPS : Course Catalogue : Deanery of Molecular, Genetic and Population Health Sciences : Molecular and Clinical Medicine

Postgraduate Course: Analysis and Reporting of Next Generation Sequencing (MCLM11058)

Course Outline
SchoolDeanery of Molecular, Genetic and Population Health Sciences CollegeCollege of Medicine and Veterinary Medicine
Credit level (Normal year taken)SCQF Level 11 (Postgraduate) AvailabilityNot available to visiting students
SCQF Credits20 ECTS Credits10
SummaryThis 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 cover the analysis of data for mutation detection, somatic and germline, using a range of bioinformatics approaches. 50% of this course will involve development of a real next generation sequencing clinical service or a related project.

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 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 The first half of the course will be taught by lectures and interviews that will be made available online as the course progresses. For the second half of the course students will undertake an NGS development project, supervised by an appropriate local supervisor. The specific nature of projects will vary, depending on local service needs and background of the student.

The course is divided into four conceptual blocks:

4A. Next generation sequencing technologies
4B. Bioinformatics approaches to analysing NGS data
4C. Variant interpretation: mechanisms of mutation action and the de-novo paradigm for rare disease causation
4D. Practical implementation of NGS
Entry Requirements (not applicable to Visiting Students)
Pre-requisites Co-requisites
Prohibited Combinations Other requirements None
Additional Costs Purchasing of books, personal computers if not using university facilities
Course Delivery Information
Academic year 2018/19, Not available to visiting students (SS1) Quota:  None
Course Start Flexible
Course Start Date 06/08/2018
Timetable Timetable
Learning and Teaching activities (Further Info) Total Hours: 200 ( Lecture Hours 5, Seminar/Tutorial Hours 4, Supervised Practical/Workshop/Studio Hours 84, Online Activities 8, Feedback/Feedforward Hours 4, Formative Assessment Hours 8, Summative Assessment Hours 18, Programme Level Learning and Teaching Hours 4, Directed Learning and Independent Learning Hours 65 )
Assessment (Further Info) Written Exam 0 %, Coursework 100 %, Practical Exam 0 %
Additional Information (Assessment) Coursework - 100%

Assessments utilised to monitor students' progression include participation in online discussions, a written assignment and a written laboratory project report.
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:
  1. Explain and compare different next generation sequencing technologies
  2. Analyse NGS data and VCF files using the Galaxy data analysis platform
  3. Evaluate the role of exome and whole genome sequencing in a diagnostic setting
  4. Develop original and creative approaches to establishing a new NGS assay as part of a clinical service
Reading List
Primary research articles and authoritative reviews will be provided to students during the course.
Additional Information
Graduate Attributes and Skills Not entered
KeywordsMolecular Pathology,Genetics,Genomic Medicine,Genomics,Cancer,Next Generation Sequencing
Course organiserDr Nick Temperley
Course secretaryMrs Alison Kyte
Tel: (0131 6)51 1041
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