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Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA
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https://doi.org/10.1038/ng.3805Abstract
Kun Zhang and colleagues present a metric called methylation haplotype load (MHL) that quantifies methylation patterns within blocks of tightly linked CpG dinucleotides. They show that the MHL can distinguish samples from different human somatic tissues and that it can be used to improve detection of cancer-derived circulating DNA and identify its tissue of origin.
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