Multiomic analysis empowers precision medicine

The genetics and epigenetics of an individual to inform everything from treatment selection and diagnosis, to disease progression, target selection, and identifying novel therapeutic targets.

What is precision medicine?

Precision medicine refers to the tailoring of treatment and prevention to a specific individual. Taking a personalised approach is particularly important for complex diseases, such as cancer and neurodegenerative disorders, that have a wide range of causes that contribute to disease initiation and progression via different pathways. Causes could include genetic mutations, changes to DNA methylation patterns impacted by the environment – or a combination of both. Moving away from a one-size-fits-all paradigm with knowledge of an individual’s genome and epigenome is vitally important to improving the speed, efficiency and efficacy of treatment, overall leading to better patient outcomes.

Genetics alone does not tell the whole story

Epigenetic modification of cytosine with 5mC and 5hmC plays a crucial role in regulating gene expression, therefore serving as the bridge between genetic predisposition to disease and environmental influences on health. Understanding both genetics and DNA methylation with a 6-base genome is fundamental to understanding the complexity of disease and an individual’s response to treatment.

Unlocking personalised health and care with combined genetic and epigenetic data

Integrating DNA methylation data with genetic sequence can help develop precision medicines and offer a more comprehensive and nuanced approach to health and care.

Develop tailored therapeutics

Genetic and epigenetic sequencing technologies can be used to study interactions of genomic features with individual disease phenotypes. Technologies that study both the genome and epigenome with high accuracy are crucial to identify potential new therapeutic targets.

Disease prediction and diagnosis

DNA methylation patterns are increasingly used to diagnose diseases more accurately and can serve as early indicators of disease risk before clinical symptoms emerge. For example, specific methylation patterns are associated with certain cancers, aiding in their identification and progression.

Monitor disease progression and treatment response

Sequencing the 6-base genome can be used to predict gene expression and so offer insight into the effectiveness of a therapeutic treatment on the expression of a key disease-contributing gene.

Patient stratification

Combined genetic and epigenetic sequencing could be used to inform treatment selection in the individual, potentially enabling strategies to be tailored more effectively to improve patient outcomes.

Variant-associated methylation (VAM)

The term variant-associated methylation (VAM) can be used to describe the direct association of genetic variation with changes in DNA methylation – either in close proximity or across large genomic distances. VAM directly links genetic sequence information with 5mC and 5hmC methylation data in a 6-base genome to better understand the dynamic interactions that are occurring within an individual.

Gain a deeper understanding of biology

Precision medicine has immense potential to improve treatments and the patient journey. Mapping both genetic variants and methylation status simultaneously on the same DNA molecule can provide valuable insight into the genome and epigenome, crucial to development, testing, and assessing precision medicines.

  • Epigenomic and genomic information on the same DNA fragment from a single low-input sample in one workflow
  • Distinguish 5mC and 5hmC and variant-associated methylation without data loss
  • High sensitivity and specificity for SNP detection especially C-to-T mutations
  • More information from a single workflow with a low sample input requirement (5ng DNA)

Unlock the power of a 6-base genome

The duet multiomics solution evoC gives combined genetic and epigenetic sequence data and access to the 6-base genome to uncover the cellular processes that govern ageing. All 4 canonical bases and distinguish 5mC and 5hmC from a single 5ng DNA sample, in a single experiment, with high accuracy.

duet multiomics solution workflow

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