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
|
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