B4492 - DNA methylation profiling by capture sequencing - 23/01/2024

B number: 
Principal applicant name: 
Matthew Suderman | Integrative Epidemiology Unit (UK)
Louise Falk, Sue Ring
Title of project: 
DNA methylation profiling by capture sequencing
Proposal summary: 

DNA methylation is the addition of a methyl group to DNA. Patterns of DNA methylation have a variety of roles cells, the most well-known is determining the activity of genes. These patterns are known to change in response to lifestyle factors such as cigarette smoking and diet and to be useful in diagnosing disease and predicting future disease risk. Measuring patterns of DNA methylation is challenging as there are about 28 million locations in the human genome that can be methylated. Fortunately, we can obtain useful information about health from a small subset of these locations. A new method for cheaply measuring a small, selected subset uses a system that captures DNA fragments containing specific nucleotide subsequences and then measures the methylation patterns on those fragments by DNA sequencing. A couple of ALSPAC DNA samples have had DNA methylation measured using more expensive methods (beadchip and nanopore sequencing). We would like to evaluate the performance of our new method by applying it to these samples and then comparing the results to these other methods.

Impact of research: 
We are about to apply this approach to thousands of samples from the NHS Targeted Lung Health Check to estimate lung cancer risk, potentially identifying individuals who would not need receive expensive and potentially distressing cancer tests.
Date proposal received: 
Monday, 15 January, 2024
Date proposal approved: 
Monday, 15 January, 2024
Epidemiology, Cancer, DNA sequencing, Biological samples -e.g. blood, cell lines, saliva, etc., Epigenetics