Postgraduate Course: Analysis and Reporting of Next Generation Sequencing (MCLM11058)
|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
|Summary||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 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.
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)
||Other requirements|| None
|Additional Costs|| Purchasing of books, personal computers if not using university facilities
Course Delivery Information
|Academic year 2019/20, Not available to visiting students (SS1)
|Course Start Date
|Learning and Teaching activities (Further Info)
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
|Assessment (Further Info)
|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.
||Students will receive formative or summative feedback on all assessed pieces of work.
|No Exam Information
On completion of this course, the student will be able to:
- Explain and compare different next generation sequencing technologies
- Analyse NGS data and VCF files using the Galaxy data analysis platform
- Evaluate the role of exome and whole genome sequencing in a diagnostic setting
- Develop original and creative approaches to establishing a new NGS assay as part of a clinical service
|Primary research articles and authoritative reviews will be provided to students during the course.|
|Graduate Attributes and Skills
|Keywords||Molecular Pathology,Genetics,Genomic Medicine,Genomics,Cancer,Next Generation Sequencing
|Course organiser||Dr Amy Hansen
Tel: (0131 6)51 8757
|Course secretary||Miss Louise Pert
Tel: (0131 6)51 1041