GNA5120 - Genome Curation

General Unit Information

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The use of genome scale data in clinical applications is rapidly increasing. You will develop expertise in the use of software applications for the calling of genome sequence variants. You will learn how to interpret these variants including examining their presence in population datasets and clinical registries.

You will learn about population stratification and ancestry and how it applies to the interpretation of genome sequences, and the use of genomics in precision medicine.

You will also discuss the ethical issues associated with personal genomes and the requirements for laboratory accreditation, and guidelines for variant classification and reporting.

Learning outcomes

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

  1. Interpret and classify genetic variants and understand their significance among different populations;
  2. Outline the current guidelines and accreditation within the genome analysis industry;
  3. Analyse genome data to identify causative variants using current software and databases;
  4. Formulate variant reports suitable for clinical use and consistent with guidelines;
  5. Demonstrate understanding of the ethical issues surrounding genome analysis and datasets and the necessity for informed consent.

Specific Unit Information

Names Dr Desirée du Sart 
Office location 25Rnf (Bld 18) - Rm 118  
Office hours By appointment - please e-mail  
Technical coordinators
Names Christa Meek
Office location 18Inn (Bld 17) - Rm 337 
Program for 2022
Handbook Entry GNA5120 - Synopsis, Assessment & Prerequisites 
Schedule GNA5120 - Workshop and Laboratory Schedule 2022
Important links
Science Faculty Information for Current Students 
University Information for Students - Timetables, Exam, Semester Dates, more.....