George Kuodza

How can cutting-edge tech help decode the complex #epigenome to reveal disease mechanisms, biomarkers & new therapies? Join us for the Unlocking the Epigenome: Precision Tools for Complex Diseases webinar series to find out. #epigenetics
Register now: hubs.la/Q03pFXJk0

Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides - Nature Genetics A new method called polymerase error rate sequencing (PER-seq) can measure the nucleotide misincorporation rate of DNA polymerases. DNA polymerase ε mutants produce an excess of CpG<TpG errors duri...

What is the most common type of mutations, causing cancer and genetic diseases? C to T mutations in CpGs: Signature 1.

What is the best understood mutational signature? Signature 1. Or is it?

An intro thread about a paper we published last year... 🧵1/
www.nature.com/articles/s41...

#postdoc #epigenetics #lipidomics #pregnancy #adversepregnancyoutcomes #ucdavis

Grateful to present at the 10th Annual Postdoctoral Scholars Research Symposium at UC Davis!
I shared work from the GROWell study exploring triglycerides and adverse pregnancy outcomes, and received 2nd place.
Thank you to my amazing PIs, Leigh Ann Simmons, and our team for making this possible!!!

We summarized state-of-the-art computational methods for DNA methylation analysis using long-read sequencing, covering everything from base calling to sample-level, cell-type-level, and even population-scale analysis. Huge thanks to @sedlazeck.bsky.social and @timp0.bsky.social for this great work!

Join us at the 2025 Epigenetics Society International Conference in Chicago! Discover the latest in DNA, RNA, and chromatin epigenetics, steps from Navy Pier & Michigan Ave! www.esconference25.com. #Epigenetics2025 #DNA #RNA #Chromatin #ScientificConference #Chicago

Thanks for sharing.

#Epigenetics #DNAmethylation #ASD #Autism #prevalence #genomics #DNA

Intercontinental insights into autism spectrum disorder: a synthesis of environmental influences and DNA methylation Abstract. Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by a broad range of symptoms. The etiology of ASD is though

Hi all. I’d like to share our review article that links environmental factors and DNA methylation in ASD across different geographic regions, with global and country-specific prevalence data that outlines the factors influencing ASD diagnoses by region and year.

academic.oup.com/eep/article/...

Sex-specific DNA methylation signatures of autism spectrum disorder in newborn blood Background: Autism spectrum disorder (ASD) comprises a group of neurodevelopmental conditions currently diagnosed by behavioral assessment in childhood, although neuropathology begins during gestation. A poorly understood male bias for ASD diagnosis is thought to be due to both biological sex differences and cultural biases against female diagnosis of ASD. Identification of molecular biomarkers of ASD likelihood in newborns would provide more objective screening and early intervention. Epigenetic dysregulation has been reported in multiple tissues from newborns who are later diagnosed with ASD, but this is the first study to investigate sex-specific DNA methylation signatures for ASD in newborn blood, an accessible and widely banked tissue. Methods: DNA methylation was assayed from ASD and typically developing (TD) newborn blood (discovery set n = 196, replication set n = 90) using whole genome bisulfite sequencing (WGBS). Sex-stratified differentially methylated regions (DMRs) were assessed for replication, comparisons by sex, overlaps with DMRs from other tissues, and enrichment for biological processes and SFARI ASD-risk genes. Results: We found that newborn blood ASD DMRs from both sexes significantly replicated in an independent cohort and were enriched for hypomethylation in ASD compared to TD samples, as well as location in promoters, CpG islands and CpG shores. Comparing females and males, we found that most DMRs with sex differences amongst TD individuals were also found in ASD individuals, plus many additional DMRs with sex differences that were only found in those with ASD. Newborn blood DMRs from females were enriched for the X chromosome and both sexes showed significant overlap with DMRs from umbilical cord blood and placenta but not post-mortem cortex. DMRs from all tissues were enriched for neurodevelopmental processes (females) and SFARI ASD-risk genes (females and males). Limitations: This study is primarily limited by sample sizes, particularly amongst females. Conclusions: Overall, we found a highly replicated sex-specific DNA methylation signature of ASD in newborn blood that showed support for the female protective effect and convergence with epigenetic and genetic signatures of ASD in newborns. These results demonstrate the utility of newborn blood in ASD screening and emphasizes the importance of sex-stratification in future studies. ### Competing Interest Statement The authors have declared no competing interest.

Sex-specific DNA methylation signatures of autism spectrum disorder in newborn blood
https://www.biorxiv.org/content/10.1101/2024.07.11.603098v2.abstract?%3Fcollection=
#Epigenetics #Genomics