DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology in health and disease. The interaction of genetics with the epigenome plays a causal role in cell fate, ageing, and disease development. For example, modified cytosine profiles of cancer are differential from non-cancer, and genetic plus modified cytosine data together are more powerful for the detection of early cancer than either alone.
Methods widely used to detect epigenetic DNA bases do not distinguish unmodified cytosines and thymine, therefore fail to capture common C-to-T mutations and thus capture incomplete genetic information. As a result, studies of genetics and methylation together require separate measurements of genetics and epigenetics, which present multiple challenges and complexities.
We introduce duet multiomics solution +modC, a single base-resolution sequencing methodology that sequences complete genetics and cytosine modifications in a single workflow, enabling the identification of genetic variants and quantification of modified cytosine levels in a single experiment, at high accuracy for both genetics and epigenetics.