American Society of Human Genetics Annual Meeting 2023

Visit us at booth #638

Learn about our new 5-letter sequencing technology – duet multiomics solution +modC – and discover the combinatorial power of genetics and epigenetics.

1 November 2023
to 5 November 2023

Walter E. Washington Convention Center, Washington, DC

About the event

The world’s best and brightest in human genetics and genomics research convene once a year for ASHG’s Annual Meeting, and you are invited! Join more than 8,000 scientists from around the globe at ASHG 2023 to take part in a 5-day program comprising the year’s most significant new advances in the field. From Invited Sessions, to Workshops, to the Presidential Symposium and the Distinguished Speaker Symposium – there is something for everyone! Join for cross cutting issues, a celebration of ASHG’s 75th anniversary and a demonstration of new products and innovations supporting research – it won’t be the same without you!

Discover the combinatorial power of genetics and epigenetics at single-base resolution from limited DNA

Páidí Creed, PhD

Senior Director of Computational Technologies

biomodal

Friday, November 3, 1:05-1:35pm (30 min) / CoLab Theater 3

Presentation abstract

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. One such example is liquid biopsy for profiling of cell-free DNA (cfDNA) in blood, which has shown huge promise in early cancer detection, as well as identification of residual disease and subtype. A standard blood draw yields an average of only 10 ng of cfDNA, limiting a researcher to measuring one of genetics or methylation in their sample.

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. This method is compatible with low quantities of input material, enabling the measurement of genetics and methylation in cfDNA, increasing the information available to identify traces of tumour in cfDNA. The phased nature of the technology, whereby genetic and epigenetic information is available jointly at read level, enables the study of genetic and epigenetic co-variation as seen in allele-specific methylation (ASM), whereby differential methylation patterns are observed between heterozygous variants.

Longitudinal whole-genome epigenetics of aging in human blood

Mahdi Moqri, PhD MBA,

Joint Research Fellow

Stanford University and Harvard University

Friday, November 3, 1:05-1:35pm (30 min) / CoLab Theater 3

Presentation abstract

Attend the talk to learn more.

One sample. One workflow. One solution.

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Attending from biomodal

Director, Business Development – East Coast USA and Canada
Director of Sales and Business Development for North America
Vice President, Computational Technologies
ASHG 2023

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