GNA5022 - Sequencing technologies

General Unit Information

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This unit will cover the theory behind the commonly used sequencing platforms, you will gain a detailed understanding of how sequence data is generated. You will learn about the many different methodologies for sample and library preparation, and their influence on the data generated. You will gain experience in working with different sequence formats and develop skills to critically assess the quality of next generation sequencing data. You will learn how to perform variant calling for several different classes of genomic variation, and critically evaluate which methods are best suited to particular tasks. You will gain experience in identifying errors in sequence data and integrating your knowledge to allow you to troubleshoot the process of sequence generation.

Learning outcomes

On successful completion of this unit, you should able to:

  1. Contrast the data types generated by all commonly used sequencing platforms;
  2. Compare common techniques used for library preparation and explain which library preparation methods are used for a particular task;
  3. Assess data quality and perform error correction for different types of sequence data;
  4. Manipulate sequence data from commonly used sequencing techniques and identify suitable variant calling approaches;
  5. Perform basic genomic analyses associated with functional characterization of variants.

Specific Unit Information

NamesDr Mike McDonald
Office location  
Office hoursBy appointment - please e-mail 
Technical coordinator
NamesKate Elliott
Office location25Rnf (Bld 18) - Rm 108 
Program for 2022
Handbook EntryGNA5022 - Synopsis, Assessment & Prerequisites 
ScheduleGNA5022 - Lecture & Practical Schedule for 2022
Important links
Science FacultyInformation for Current Students 
UniversityInformation for Students - Timetables, Exam, Semester Dates, more.....