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App Note

Twist Targeted Methylation Sequencing

In the decades since sequencing the human genome, researchers have linked genetic factors to many disease states. However, the nucleotides encoding genomic DNA are only part of how genetics influence cellular functions and overall health; epigenetics (changes, in some cases heritable, that occur without modifying DNA sequences) also play a key role. DNA methylation is a well studied epigenetic marker chemically modifying cytosine and adenine. Cytosine methylation is most commonly found at CG sequences in the genome, referred to as a CpG site and is widely used to regulate gene expression in a cell-specific manner. Genome wide association studies (GWAS) link changes in DNA methylation to complex diseases like cancer and obesity and complex biological states like aging and development. In recent years, methylation sequencing has expanded beyond gene expression and is starting to gain traction in disease diagnosis. For example, studies have shown differential methylation is a particularly informative and sensitive marker for cancer detection, regardless if methylation is associated with gene expression.