Bioinformatics, Interpretation, Statistics & Data Quality Assurance in Genomics


This module will provide the knowledge and understanding required to critically interpret existing genomic research, and develop the skills to formulate research questions. Also provides the skills to collect, analyse and interpret NHS data using a basic range of statistical and bioinformatics techniques.

From April 2019 we are introducing a new application process.

To apply for HEE funded modules please directly contact your chosen University. The application process flow chart can be found here.

HEE Commissioned places will be allocated on a modular basis only as funding is limited. Speak to your chosen University if you wish to complete more than one module leading to a PGCert, PGDip, or MSc qualification.

Course Description

The aim of this module is to enable students to gain the knowledge and understanding required to critically interpret existing genomic research, and develop the skills to formulate their own research questions as well as to collect, analyse and interpret their own NHS data using a basic range of statistical and bioinformatics techniques. This is critical to the 100,000 genomes project as the main challenge for application of genomic data is in its analysis and interpretation.

Outline Of Syllabus

  • Aligning genome data to reference sequence using up to date alignment programmes (e.g. BWA)
  • Assessment of data quality through application of quality control measures
  • How to determine the analytical sensitivity and specificity of genomic tests
  • Use of tools to call sequence variants e.g. GATK, annotation of variant-call files using established databases
  • Filtering strategies of variants, in context of clinical data, and using publically-available control data sets
  • Use of multiple database sources, in silico tools and literature for pathogenicity evaluation, and familiarity with the statistical programmes to support this
  • Principles of integration of laboratory and clinical information, and place of best-practice guidelines for indicating the clinical significance of results
  • Principles of downstream functional analysis e.g. knock-outs, and other cellular model
  • How to analyse genomic data to identify epigenetic and other variation that modifies phenotype
  • Practice in examples of analysis of genomic data in the Training Embassy within the Genomics England Data Centre.

Additional information

Type of Course

CPPD Module

Course Options

CPPD (15 credits)

Mode of Study





Part Time

University Providers

Imperial College London, Queen Marys University of London / University College London, St Georges, University of London, University of Birmingham, University of Cambridge, University of Manchester


Start Date
University of BirminghamFebruary 2020
Newcastle University
University of Manchester
University of Sheffield
Imperial College LondonApril 2019
Queen Marys University of London / University College LondonMarch 2019
St George’s, University of London / King’s College LondonSpring 2020
University of CambridgeFebruary 2020
University of Southampton
University of Exeter

Please check the university providers websites for more detailed information about start dates, length and mode of study.

Funding Rules

Funding is limited to NHS healthcare professionals working in England from the full range of professional backgrounds and groups (such as medicine, nursing, healthcare scientists and technologists).  For those interested in CPPD modules, university entry requirements may include criteria around existing understanding and minimum English language requirements.

Not all universities offer the same CPPD modules. Please check with your preferred university to obtain details of the programme modules, entry criteria and timing before going through the funding application process.

Please download a visual flow diagram outlining the funding application and approval process.

Frequently Asked Questions

I have been awarded funding, started the programme but I am unable to complete the programme. What are my options?

Funding is awarded for CPPD modules only and there is no automatic ability to defer completion of the programme. You should speak to your preferred University provider in the first instance about your situation and also contact the Genomics Education Programme team regarding funding.

How much study time is required to undertake this programme?

Study time will vary across the delivery partners. You are advised to visit your preferred University website site for more information or to contact the relevant course lead. Most modules generally involve approximately 5 days of face to face teaching, followed by between 2-4 weeks of independent study and assessment preparation.

A distance learning option is provided at Queen Mary University of London.

Can I build up my CPPD modules to a full Master’s, PGDip or PGCert qualification?

The process and ability to do this will be dependent on your preferred University and you should contact them to discuss available options.

I am eligible but have been refused a commissioned place – why?

This may be due to the following potential reasons:

  • The University you have applied for has used up all its commissioned allocations
  • The total number of available national commissions have been fully allocated
  • We are now applying controls to the commissioned places based on healthcare profession roles to provide some equitable access across professions on a national scale
I am not eligible for a HEE funded commissioned place – can I self-fund?

This should be discussed with your preferred University

Do you have to have the university place confirmed before you submit an application for funding?

No – as long as the programme start date for your preferred University falls within the specified academic year for the funding application period.

I work for an organisation that provides services to the NHS – am I eligible to apply?

Yes – please provide details in the additional information section of the funding application form.

University Providers


The logos below indicate the university providers that are able to accept HEE funded applications for this course. Follow the links provided to begin your university application process.

Imperial College LondonQueen Marys University of London / University College LondonSt Georges, University of LondonUniversity of BirminghamUniversity of CambridgeUniversity of Manchester