Yong Li

Big news in genomics: Eric Green, former Director of NHGRI, has been appointed Chief Medical Officer @illumina, effective February 2, 2026. Eric is a key architect of the Human Genome Project and a driving force behind genomic medicine. Exciting move from Illumina, and great to see the focus on bringing genome to medicine! illumina.com/company/news-c…

Is it the more the better with PGx testing? Response from Quest Diagnostics: On September 4, 2025, they launched a revamped pharmacogenomics (PGx) testing service, offering a narrower panel and streamlined results reporting. What do you think? newsroom.questdiagnostics.com/2025-09-04-Que…

A PNAS study uncovers the mechanism underlying the CACNA1C-schizophrenia GWAS associations: A variable region of the intron 3 VNTR repeats in CACNA1C, in strong linkage with risk SNPs, lowers CACNA1C expression in the brain, potentially disrupting CaV1.2 channel function vital for neuronal signaling and memory. pnas.org/doi/full/10.10…

An interesting AI-driven method for gene-set analysis was just published in Nature Methods. The bioinformatics tool ‘GeneAgent’ pairs GPT-4 with biological database checks to reduce LLM hallucinations in GSEA, outperforming GPT-4 alone with 92% accuracy (per expert review). #genomics #LLM nature.com/articles/s4159…

For researchers studying human diseases and health via #epigenetics, the 2025 Epigenetics Research Grant Contest by @illumina is open for applications. Deadline: Aug 24, 2025. Eligible: genomic scientists at academic, nonprofit, or for-profit institutions. #ResearchGrant illumina.com/techniques/mic…

Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.

New study from @CommsBio : A father’s weight during puberty may shape their child’s health. Overweight adolescent dads passed on epigenetic changes linked to asthma risk, lower lung function & higher BMI in kids. Puberty could be a critical window for transgenerational health. #epigenetics nature.com/articles/s4200…

At AACR 2025, the phase II ROME trial revealed that combining tissue and liquid biopsies to guide therapy in advanced solid tumors significantly improves survival compared to single-biopsy methods or standard care. Among 1,794 patients, those with matching actionable mutations in both biopsy types experienced the greatest benefit, with median overall survival reaching 11.05 months. Notably, discordance between biopsies was highest in PI3K/PTEN/AKT/mTOR and ERBB2 pathway alterations—highlighting the importance of dual profiling to capture tumor heterogeneity and guide more effective precision treatments. pharmacytimes.com/view/tailored-…

Illumina and Ovation.io are developing the first real-world dataset to integrate clinical and #multiomics data from 25,000 patients treated with GLP-1 therapies. This pioneering effort aims to uncover how biology and genetics shape individual treatment responses. illumina.com/company/news-c…

@sharryConfect Yes, GWAS might help identify the modifiers if there is sufficient sample size. The epigenetic signature contains rich information, can probably be used to reveal the signaling pathways.

@fugapku Can GWAS used to understand this study and maybe identify possible signaling pathways??

Kabuki syndrome type 1 (KS1) is a rare genetic disorder. A causal Alu insertion was identified in a unsolved Kabuki syndrome patient - amazingly - through DNA methylation signature. It's the first documentation of Alu insertion as a molecular mechanism responsible for KS1. #RareDisease …lepigeneticsjournal.biomedcentral.com/articles/10.11…

Congratulations big sis @SusanWojcicki on being inducted into the Advertising Hall of Fame. I think about you and your legacy every day and how much you inspired me. ❤️. Thank you @tarawlevy for everything you said. vimeo.com/1080309143

The FDA recently missed the approval deadline for a biotech company's #raredisease drug, may be linked to significant job cuts at the FDA, which have raised concerns about the agency's ability to handle drug reviews efficiently. statnews.com/pharmalot/2025…

Congratulations to Isabel Cristina Céspedes at @unifesp - Universidade Federal de São Paulo, winner of the 2024 @illumina Epigenetics Research Grant Contest. The award enables researchers to deepen their understanding of human disease with the Illumina Infinium Methylation Screening Array. Céspedes hopes to take the first-ever molecular approach to studying the unwanted effects of blood transfusions. Looking forward to reading the exciting publications that are sure to come from this research! youtube.com/watch?v=UYB_hD…

'ME/CFS Cases in England Exceed Initial Projections' 'There are almost two-thirds more people living with ME/CFS in England than previously thought, a study says' miragenews.com/mecfs-cases-in…

A new Cell article highlights how geroscience is moving toward clinical use via precision geromedicine. With tools like epigenetic clocks, scientists are developing personalized anti-aging therapies—senolytics, tailored diets, and more—to target aging and boost healthspan. Exciting direction! #aging #precisionmedicine cell.com/cell/fulltext/…

Could vaccines help prevent Alzheimer’s disease? Recent studies suggest that some viruses like HSV-1 and VZV may accelerate it via brain inflammation, while #vaccines, especially for shingles, may reduce dementia risk—possibly by boosting immunity. Evidence is growing, but more research is needed. #Alzheimers nature.com/articles/d4158… nature.com/articles/s4158…

For those eager to explore epigenetics technologies for their research, the upcoming virtual event from @illumina “Epigenetics: The Full Picture” may be of interest: eventregistration.illumina.com/event/2cf447a2…

Illumina and Tempus are partnering to accelerate precision medicine by combining AI and multimodal data to boost clinical adoption of genomic testing across all major disease areas—like cancer, neurology, and cardiology. A major step toward AI-driven care. @TempusAI

A new study in @NatureComms reports a novel PLpro inhibitor that improves outcomes in a preclinical model of #longCOVID. The compound shows promise in reducing lung pathology and brain dysfunction, offering potential for future treatments. nature.com/articles/s4146…