B3891 - Methylome sequencing using nanopore - a pilot analysis - 20/10/2021

B number: 
Principal applicant name: 
Josine Min | MRC IEU, University of Bristol (United Kingdom)
Professor Jonathan Mill, Professor Caroline Relton, Dr Eilis Hannon
Title of project: 
Methylome sequencing using nanopore - a pilot analysis
Proposal summary: 

A powerful avenue into researching the functional consequences of changes in DNAm levels is to correlate DNA sequence variants such as single nucleotide polymorphism (SNPs) to DNAm levels to find both local and distal (for example on other chromosomes) effects. Having completed the largest genetic study of DNAm worldwide to date (through the Genetics of DNA Methylation Consortium) by scanning 10 million SNPs genome-wide, we have identified 270k SNP-DNAm associations. This was achieved by analysing about 400,000 DNAm sites in blood, which is only 2% of 28 million DNAm sites across the genome. There is a huge potential for improved understanding of DNAm variation between individuals and its influence on health and disease by studying other regulatory regions of the genome. We therefore will use novel sequencing technologies based on long reads with the ability to measure all 28 million sites and to determine both the DNAm level and the genotype at single molecule level.

Impact of research: 
Date proposal received: 
Wednesday, 29 September, 2021
Date proposal approved: 
Thursday, 30 September, 2021
Epigenetics, Addiction - e.g. alcohol, illicit drugs, smoking, gambling, etc., methylome sequencing using nanopore