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Human Genetics - BIO00042H

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  • Department: Biology
  • Module co-ordinator: Dr. Gonzalo Blanco
  • Credit value: 10 credits
  • Credit level: H
  • Academic year of delivery: 2018-19

Related modules

Pre-requisite modules

Co-requisite modules

  • None

Prohibited combinations

  • None

Module will run

Occurrence Teaching cycle
A Autumn Term 2018-19

Module aims

We are witnessing a period of very rapid change in our knowledge and capabilities in the area of human genetics, thanks to genome sequencing and related technologies, and promising new therapeutic approaches. This module will introduce the current picture and provide the necessary background to understand how the field is developing.This course will first introduce a description of the human genome and its evolution, with an emphasis on the features that can explain the prevalence of certain diseases in modern day humans. The classical processes of mutation identification in single gene disorders as well as risk alleles in complex diseases will be explored and the impact of modern technologies critically appraised using primary research literature. A variety of templates and formative examples will be used for calculations of genetic risk in human pedigrees.

Module learning outcomes

Students studying this module will be able to:

  • Describe the human genome and the processes that affect it.
  • Explain how comparative genomics has led to our current picture of the origin of modern humans.
  • Discuss examples of genes that have been under selection in human history.
  • Calculate genetic risk by using the genotype probability in human pedigrees in simple and complex scenarios.
  • Describe, with examples, the basis of single gene and complex disorders.
  • Explain how genes associated with Mendelian or multifactorial disorders can be identified.
  • Critically appraise current literature associated with specific topics in human genetics.


Task Length % of module mark
University - closed examination
Human Genetics
2 hours 100

Special assessment rules



Task Length % of module mark
University - closed examination
Human Genetics
2 hours 100

Module feedback

Feedback on your progress is important to your learning process; Stage 3 and 4 scripts are not returned to you, but you will be given feedback on your January examinations by the middle of the spring term and will also have an opportunity to view the examiners’ comments on your scripts at the end of the spring and summer terms.

Module marks are made available to both you and your supervisor via your eVision account as soon as the marks are available, by week 6 of the spring term and week 8 of the summer term. You are expected to discuss your performance and progress with your supervisor in your mid-spring term and end of summer term supervisory meetings.

A histogram of all module marks is produced and posted on the examinations notice board outside Biology Student Services.

Specimen answers are posted on the web: by comparing the specimen answers with your own, you should obtain a clear idea of what was expected of you. For each module the markers will also give general feedback on how well the questions were answered and point out any standard errors that students may have made.

Indicative reading

These are available through the VLE module site.

The information on this page is indicative of the module that is currently on offer. The University is constantly exploring ways to enhance and improve its degree programmes and therefore reserves the right to make variations to the content and method of delivery of modules, and to discontinue modules, if such action is reasonably considered to be necessary by the University. Where appropriate, the University will notify and consult with affected students in advance about any changes that are required in line with the University's policy on the Approval of Modifications to Existing Taught Programmes of Study.

Coronavirus (COVID-19): changes to courses

The 2020/21 academic year will start in September. We aim to deliver as much face-to-face teaching as we can, supported by high quality online alternatives where we must.

Find details of the measures we're planning to protect our community.

Course changes for new students