Tiny Genome

This paper-based classroom activity immerses students in the process of genomic testing and finding variants that contribute to genetic disease.



This activity introduces students to the processes involved in DNA testing and analysis, one of the most relevant applications of medical genomics today.

This is a paper-based activity that can be completed in groups. Students sequence the genome of a hypothetical creature, identify variants, and determine the cause of the patient’s symptoms. 

A worksheet is also provided to use as revision for types of mutations, using the terms favoured in medical genomics.

A teacher guide is available for this activity. It includes links to further resources, extension questions, and answers. A powerpoint file with answers for in-class use is also available.
Please email kccgeducation@garvan.org.au from a school email address to gain access.

Syllabus connections

HSC Biology NSW


  • model the process of polypeptide synthesis, including:
    • transcription and translation
    • analysing the function and importance of polypeptide synthesis
  • investigate the use of technologies to determine inheritance patterns in a population using, for example:
    • DNA sequencing and profiling

Genetic Change

  • compare the causes, processes and effects of different types of mutation, including but not limited to:  
    • point mutation
    • chromosomal mutation
  • assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of mutation

Assumed Knowledge

  • The central dogma of biology. DNA to mRNA to protein. Transcription and translation.
  • Mutations- types and effects
  • Optional- how DNA sequencing works.

Implementation Notes

This activity is divided into tasks.

Tasks 1-4 take students through the process of DNA sequencing, finding mutations and making sense of them. Depending on the student group, this could fill a 30-45min lesson (allow longer if starting with the quiz and variant worksheet).

Tasks 5 and 6 involve application, critical thinking and problem solving. Task 5 introduces the concept of genetic databases, and task 6 involves interpreting a scientific abstract. These tasks could be used as a second lesson or given as an extension sheet. They could also be completed as a whole group discussion.