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Investigating the Genome
Foundations of Biomedical Science 1
King's College London
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Benefits and limitations of whole genome sequencing compared to
existing clinical genetic approaches
Benefits Whole genome is complete Individual's genome does not change Potential to collect once, store, refer to again and again for clinical care Only need to analyse the sample each time for a specific question
Limitations Short reading makes accurate characterisation of large variants hard Accuracy is currently lower than older, more expensive sequencing technology
Criteria used to identify candidate causal genetic variants
Criteria Filter variants frequently observed Variants identified as pathogenic Variants in genes linked to condition Variants that affect functional elements - Protein coding sequence - Splicing - Regulatory element Variants that are normally conserved
Where use of Whole Genome Sequencing (WGS) is likely to be
clinically beneficial
Clinical Limitations Monogenic diseases - Looking for only one variant Patients with a clear phenotype can focus on genes known to be associated with the condition
Objectives and structure of the 100,000 Genomes Project
Investigating the Genome
Monday, 1 April 2019 23:
Notes
Investigating the Genome
Module: Foundations of Biomedical Science 1
University: King's College London
