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Mining cancer methylomes: prospects and challenges
journal contributionposted on 2023-05-22, 23:45 authored by Stirzaker, C, Phillippa TaberlayPhillippa Taberlay, Satham, AL, Clark, SJ
There are over 28 million CpG sites in the human genome. Assessing the methylation status of each of these sites will be required to understand fully the role of DNA methylation in health and disease. Genome-wide analysis, using arrays and high-throughput sequencing, has enabled assessment of large fractions of the methylome, but each protocol comes with unique advantages and disadvantages. Notably, except for whole-genome bisul- fite sequencing, most commonly used genome-wide methods detect <5% of all CpG sites. Here, we discuss approaches for methylome studies and compare genome coverage of promoters, genes, and intergenic regions, and capacity to quantitate individual CpG methylation states. Finally, we examine the extent of published cancer methylomes that have been generated using genome-wide approaches.
Publication titleTrends in Genetics: Dna, Differentiation and Development
Department/SchoolTasmanian School of Medicine
PublisherElsevier Science London
Place of publicationUnited Kingdom