HomeDNAHighlights and tendencies from ASHG 2021

Highlights and tendencies from ASHG 2021

Picture1-1Yearly, we at DNA GenotekTM attend the biggest convention in North America, hosted by the American Society for Human Genomics (ASHG). The convention brings collectively researchers and business firms from all over the world to share new discoveries and improvements in human genetics and genomics.

This yr, DNA GenotekTM contributed to ASHG with a presentation by Dr. Yen Wong’s on the Comparability of epithelial cell content material of oral samples estimated utilizing cytology and DNA methylation.

Within the subsequent few paragraphs, we’ll spotlight crucial tendencies that emerged from the convention and supply a synopsis of Dr. Yen Wong’s presentation.

This previous yr was an unbelievable yr for the sphere of genomics and its associated analysis actions. Regardless that the convention was digital for the second yr in a row, it nonetheless produced a whole bunch of analysis abstracts, dozens of every day talks, and unbelievable workshops and co-labs sponsored by leaders within the genomics business. This yr, we seen 3 major themes rising from the talks and analysis posters:


As a trending subject, Multi-omics has grown considerably over the previous few years. Many researchers have began collaborating on tasks that combine a mess of “omes” into their analysis. The combination of multi-omics in analysis has unlocked new discoveries and therapeutic approaches to illness therapy.

For instance, through the platform session on Multidisciplinary omics approaches for diagnostics, Dmitrii Smirnov, writer of “Integration of proteomics with genomics, transcriptomics, and phenomics will increase the diagnostic price of Mendelian problems”, spoke about how the mixing of different ‘omes’ into his genetic analysis led to resolving 21% of the unresolved circumstances in entire genome sequencing (WGS)/entire exome sequencing (WES) in Mendelian problems. 

Precision drugs and pharmacogenomics 

Customized drugs is the way forward for scientific genomics. In reality, a majority of the platform periods, invited talks, and co-labs are focusing on this rising subject. Over the previous decade, scientific analysis has expanded how we view therapeutics and drugs. Beforehand, therapeutics and drugs fell into the “one-size-fits all” method and had been unsuccessful for people who underwent therapy.

On Friday Oct 22nd, one other platform on Increasing genetic approaches and functions in pharmaco and scientific genomics, featured 6 talks from a wide range of researchers. Dr. Binglan Li, from Stanford College, spoke about “The data hole between pharmacogenomics and medical genetics: Is there a bridge in between?” He tackled the challenges that precision drugs faces, together with the data hole between medical genetics and pharmacogenomics. He urged that the standard of healthcare would enhance from the purpose of illness analysis to drug prescription and compliance, if pharmacogenomics data was included in each medical course of.

Biodiversity in genetic information and diagnostic analysis 

Final yr at ASHG, biodiversity grew exponentially as a trending subject amongst researchers and within the variety of talks; and it’s no shock that the discussions are persevering with as we speak. If precision drugs is the way forward for scientific genomics, the information behind it should characterize a various group of people. You will need to research populations which have cultural and societal buildings which might be dissimilar to western populations.

In the identical platform, Dr. Younger Euon Ko, from the College of North Carolina, spoke about “Understanding the significance of racial variety within the growth and implementation of pharmacogenomic pointers in kidney transplant sufferers receiving tacrolimus.” Her staff realized that completely different ethnic teams in America require completely different doses of tacrolimus. They discovered that African Individuals have the next degree of inter-individual dose variability, which additional emphasizes the necessity to obtain correct tacrolimus dosing ranges in early therapy. To realize this want, pharmacogenomics-based dosing could require investigating ancestry-specific dosing algorithms.


Dr. Wong's quoteDNA Genotek contributed to ASHG2021 with a presentation, that includes Dr. Yen Wong’s analysis in salivary epigenetics.

Dr. Wong’s staff performed an Epigenome-Huge Affiliation Examine (EWAS), investigating small mutation results that could possibly be current in advanced ailments or as a consequence of environmental publicity (epigenetic adjustments). The research centered on exhibiting how cellular heterogeneity is a serious confounder of EWAS. That is because of the cell-type particular state of the annotations, particularly these current in oral samples that include a mix of epithelial and immune cells. Case-controlled EWAS are notably delicate to (un)recognized confounders.

The research rationale was:

  • Buccal and saliva samples have confirmed a utility for epigenomics and different cell-based omics.

  • Mobile heterogeneity is the foremost confounder for EWAS research and deconvolution of those mobile mixtures is of the utmost significance.

  • The validity of such algorithms has not but been examined, utilizing cytology of main samples.

Dr. Wong defined how the gathering methodology can affect heterogeneity in oral samples. For instance, buccal swabs include the next proportion of epithelial cells than these current in precise saliva; and the identical proportion is very influenced by the person’s age and oral well being standing.

The research aimed to:

  • Use cytology to match the proportion of buccal epithelial cells and white blood cells in oral samples collected, utilizing differing assortment strategies with ORAcollect•DNA and Oragene•DNA assortment kits.

  • Assess yield variations throughout the completely different assortment strategies.

  • Evaluate epigenomic signatures within the saliva samples collected throughout the completely different assortment strategies to find out whether or not the cytology counts match the predictive cell proportions estimated by DNA methylation, utilizing EpiDISH algorithm.

Picture4-1Examine findings

  • The imply proportion of epithelial cells in Oragene DNA saliva samples was considerably decrease than oral samples collected with ORAcollect•DNA.

  • Saliva samples confirmed a considerably greater imply complete DNA yield (per mL) than samples collected with ORAcollect•DNA.

  • The EpiDISH algorithm can be utilized on DNA methylation information to precisely estimate mobile heterogeneity in OrageneDNA and ORAcollect•DNA collected samples.

Picture3Here is Dr. Wong’s presentation at ASHG 2021 and a extra in-depth rationalization of how she used the ORAcollectDNA and Oragene•DNA assortment kits. 




In case you are all in favour of talking with us about your epigenetic research, and to study extra about Oragene•DNA and ORA•accumulate DNA, you may ship us an electronic mail at data@dnagenotek.com.

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Dr. Yen Wong’s Bio

Dr. Wong holds a Ph.D. in Biotechnology from Deakin College. She is a postdoctoral analysis fellow within the early Life Epigenetics Group, led by Professor Jeffrey Craig within the Institute for Psychological and Bodily Well being and Scientific Translation . Her analysis areas embrace investigating and growing epigenetic biomarkers for neurodevelopmental and different persistent problems. At the moment, she is main a venture on optimizing saliva cell-type separation for the early identification of hemolysis in leukemia sufferers.



1. Altschuler, S. J. & Wu, L. F. (2010).Mobile heterogeneity: when do variations make a distinction?



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