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Programme at a Glance

Programme at a Glance

Programme at a Glance

Day 1 - Thursday 24th November 2022

On day 1, we will introduce the core terminology of genomics and provide an overview of the methodologies available in the field. There will be a focus on analysis of clinical reports. We will then have practical sessions to discuss two different scenarios in clinical practice.

Title 

Time 

Content 

Lecture

10:00-11:00 

 

Introductory concepts in genomics: terminology, modes of inheritance, genomic testing methodologies, introduction to variant nomenclature 

Break 

11:00-11:30 

 

Workshop 1

 

11:30-13:00 

 

Case 1: Autosomal dominant disorder 

Key concepts: rationale for targeted sequencing vs exome vs panel test. Interpretation of clinical reports.

Break 

13:00-14:00 

 

Lecture

14:00-15:00 

Genetic variation, genome browsers and online databases

Workshop 2

15:00-17:00 

 

Case 2: Autosomal recessive disorder

Key concepts: consanguinity, recurrence risk, family pedigree, wider family testing 

Guest lecture 

 

17:00-18:00 

 

To be confirmed 

Day 2 – Friday 25th November 2022

On day 2, we will have the opportunity to reflect on the concepts introduced on day 1 and will continue applying key genomics concepts to the analysis and interpretation of two further clinical case studies.  

Title 

Time 

Content 

 

09:00-09:30 

Reflection on learning from day one 

Lecture

09:30-10:30 

Variant interpretation guidelines 

Workshop 3 

 

 

10:30-12:30 

 

Case 3: Cancer predisposition disorder 

Key concepts: recurrence risks, inherited vs acquired mutation, incomplete penetrance, variant classification

Break 

12:30-13:30 

 

 

Workshop 4

 

13:30-15:30 

Case 4: X-linked disorder 

Key concepts: benefits of rapid genome-wide parent-offspring sequencing and gene-agnostic analysis

Q&A session  

 

15:30-16:00