Computational methods for allele-specific methylation with biomodal Duet
Michael Wilson, Nicholas J Harding, Páidí Creed, David Currie, Sabri Jamal, Casper K Lumby, Jack M Monahan, David J Morley, Fabio Puddu, Jamie Scotcher, Rosie Telford Spencer, Jean Teyssandier, Jens Fullgrabe, Audrey Vandomme, Aurel Negrea, Alexandra Palmer, Philippa Burns, Shirong Yu, Diljeet Gill, Aled Parry, Wolf Reik, and Joanna D Holbrook
DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology. Genetics & the DNA epigenome play a causal role in cell fate, ageing, response to environment and disease development. biomodal Duet is a single base-resolution sequencing protocol that simultaneously provides complete genetics and cytosine methylation. This enables precise measurements of allele-specific methylation (ASM), whereby differential methylation is traced to differences between maternal & paternal alleles. I will present the protocol & computational methods that underlie this new technology, how key diagnostics compare with the field and the significant detection of this unique signal at scale.
