Yong Li
@precisionmedicine.bsky.social
Associate Director of Bioinformatics and Software at Illumina. Unleashing the power of the genome through SW and AI. #PrecisionMedicine #Cancer #MECFS #RareDisease
Is it the bigger 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?
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?
Quest Diagnostics Launches Advanced Pharmacogenomics (PGx) Offering
New Service Empowers Clinicians with Personalized Insights from Coriell Life Sciences to Optimize Prescribing Across Specialties SECAUCUS, N.J., Sept. 4, 2025 /PRNewswire/ -- Quest Diagnostics...
newsroom.questdiagnostics.com
September 14, 2025 at 10:35 PM
Is it the bigger 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?
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?
A PNAS study reveals the mechanism of 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.
Structure of a polymorphic repeat at the CACNA1C schizophrenia locus | PNAS
Genetic variation within intron 3 of the CACNA1C calcium channel gene is associated
with schizophrenia and other neuropsychiatric disorders, but an...
www.pnas.org
September 14, 2025 at 10:06 PM
A PNAS study reveals the mechanism of 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.
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
GeneAgent: self-verification language agent for gene-set analysis using domain databases - Nature Methods
GeneAgent is a language agent using large language models and self-verification to improve gene-set function annotation.
www.nature.com
July 30, 2025 at 6:23 AM
For researchers studying human diseases and health via #epigenetics, the Epigenetics Research Grant from Illumina might be of interest. Deadline: Aug 24, 2025. Eligible: genomic scientists at academic, nonprofit, or for-profit institutions. #ResearchGrant
Illumina Epigenetics Research Grant | Innovations using epigenetics research
Research grant contest to improve how epigenetics can impact disease using DNA methylation studies.
www.illumina.com
June 29, 2025 at 6:19 AM
For researchers studying human diseases and health via #epigenetics, the Epigenetics Research Grant from Illumina might be of interest. Deadline: Aug 24, 2025. Eligible: genomic scientists at academic, nonprofit, or for-profit institutions. #ResearchGrant
New @commsbio.nature.com study: 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
Father’s adolescent body silhouette is associated with offspring asthma, lung function and BMI through DNA methylation - Communications Biology
Epigenome association study of father’s preconception body silhouette with offspring DNA methylation, providing mechanistic insight into how epigenetic inheritance impacts offspring obesity, asthma an...
www.nature.com
May 26, 2025 at 8:07 PM
New @commsbio.nature.com study: 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
At AACR 2025, the ROME trial showed combining tissue + liquid biopsies improves survival in advanced tumors. Median OS hit 11 months when two biopsies matched. Discordance was highest in PI3K/PTEN/AKT/mTOR & ERBB2 pathways—highlighting the importance of dual profiling to capture tumor heterogeneity.
AACR 2025: Tailored Treatment Guided by Combined Tissue and Liquid Biopsies May Improve Outcomes in Advanced Solid Tumors
The phase 2 ROME trial demonstrated that combining tissue and liquid biopsies to guide tailored therapy in advanced solid tumors significantly improves survival outcomes compared to standard of care o...
www.pharmacytimes.com
May 5, 2025 at 7:09 AM
At AACR 2025, the ROME trial showed combining tissue + liquid biopsies improves survival in advanced tumors. Median OS hit 11 months when two biopsies matched. Discordance was highest in PI3K/PTEN/AKT/mTOR & ERBB2 pathways—highlighting the importance of dual profiling to capture tumor heterogeneity.
Illumina and Ovation.io are developing the first real-world dataset to integrate clinical and #multiomics data from 25,000 patients on GLP-1 therapies. This pioneering effort aims to uncover how biology & genetics shape individual treatment responses, enable personalized care for #diabetes patients.
Home - Genomic Data - Ovation.io
Ovation is a genomic data company committed to unlocking the potential of human genomic data to accelerate precision medicine. By generating high-quality genomic data linked to rich, longitudinal phen...
Ovation.io
May 4, 2025 at 7:11 PM
Illumina and Ovation.io are developing the first real-world dataset to integrate clinical and #multiomics data from 25,000 patients on GLP-1 therapies. This pioneering effort aims to uncover how biology & genetics shape individual treatment responses, enable personalized care for #diabetes patients.
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
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature - Clinical Epigenetics
Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification o...
clinicalepigeneticsjournal.biomedcentral.com
May 4, 2025 at 12:16 AM
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
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.
FDA misses approval deadline for biotech’s rare disease drug
The delay for Stealth Biotherapeutics comes amid a heightened focus on the impact FDA job cuts might have on drug reviews.
www.biopharmadive.com
April 30, 2025 at 7:34 AM
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.
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!
From geroscience to precision geromedicine: Understanding and managing aging
The science of aging, geroscience, translates to its medical application, or geromedicine.
This transition will be facilitated by systematic omics technologies quantifying pro-aging
(gerogenic) and an...
www.cell.com
April 21, 2025 at 7:36 AM
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!
Could vaccines help prevent Alzheimer’s disease? Recent studies suggest that some viruses like HSV-1 & VZV may accelerate Alzheimer’s disease via brain inflammation, while #vaccines, especially for shingles, may reduce it. Evidence is growing, but more research is needed.
Do infections have a role in Alzheimer’s disease?
The suggestion that pathogens play a part in driving dementia is not as niche as it once was, but the evidence remains inconclusive.
www.nature.com
April 20, 2025 at 6:18 AM
Could vaccines help prevent Alzheimer’s disease? Recent studies suggest that some viruses like HSV-1 & VZV may accelerate Alzheimer’s disease via brain inflammation, while #vaccines, especially for shingles, may reduce it. Evidence is growing, but more research is needed.
A new study in @naturecomms.bsky.social reports a novel PLpro inhibitor that improves outcomes in a preclinical model of #longCOVID. This compound shows promise in reducing lung pathology and brain dysfunction, offering potential for future treatments.
A novel PLpro inhibitor improves outcomes in a pre-clinical model of long COVID - Nature Communications
A novel antiviral targeting the SARS-CoV-2 PLpro protease shows strong efficacy in a mouse model, preventing lung pathology and reducing brain dysfunction. The study provides proof-of-principle that P...
www.nature.com
April 12, 2025 at 1:56 AM
A new study in @naturecomms.bsky.social reports a novel PLpro inhibitor that improves outcomes in a preclinical model of #longCOVID. This compound shows promise in reducing lung pathology and brain dysfunction, offering potential for future treatments.
@labcorp.bsky.social has launched a U.S. blood test to aid Alzheimer’s diagnosis. It measures ptau-217/beta amyloid 42, potentially cutting reliance on imaging/CSF tests. With 95% sensitivity & specificity, it could significantly shorten the current 2–3 year time from first symptoms to diagnosis.
Labcorp Launches First-of-its-Kind Immunoassay to Accelerate Path to Diagnosis of Alzheimer's Disease
Labcorp's pTau-217/Beta Amyloid 42 Ratio blood test meets the performance criteria to confirm amyloid pathology consistent with Alzheimer's disease BURLINGTON, N.C. , April 2, 2025 /PRNewswire/ -- Lab...
www.labcorp.com
April 9, 2025 at 5:38 AM
@labcorp.bsky.social has launched a U.S. blood test to aid Alzheimer’s diagnosis. It measures ptau-217/beta amyloid 42, potentially cutting reliance on imaging/CSF tests. With 95% sensitivity & specificity, it could significantly shorten the current 2–3 year time from first symptoms to diagnosis.
A new study shows that Pharmacogenetics test results can change with updated interpretation methods. Many past #PGx interpretations, e.g. on CYP2D6 and CYP2C19, may be outdated—potentially changing metabolizer status & drug response assessments.
Time to reanalyze the old genetic data?
Time to reanalyze the old genetic data?
Reinterpretation of pharmacogenomic phenotypes after combinatorial psychiatric testing
Providers can use combinatorial pharmacogenomic panels to aid psychiatric medication prescribing. Results are typically documented in static documents which list the genotype and predicted phenotyp...
www.tandfonline.com
April 5, 2025 at 10:33 PM
A new study shows that Pharmacogenetics test results can change with updated interpretation methods. Many past #PGx interpretations, e.g. on CYP2D6 and CYP2C19, may be outdated—potentially changing metabolizer status & drug response assessments.
Time to reanalyze the old genetic data?
Time to reanalyze the old genetic data?
Autoimmune diseases have higher comorbidity with cancer. A new @science.org study however found that the 4H2 autoantibody, derived from lupus, may help target cancer cells. This surprising link could open the door to a new class of promising treatment strategies bridging autoimmunity and oncology.
A lupus-derived autoantibody that binds to intracellular RNA activates cGAS-mediated tumor immunity and can deliver RNA into cells
Delivery of autoimmune disease–associated antibodies activates the immune system to fight glioblastomas.
www.science.org
April 5, 2025 at 7:40 AM
Autoimmune diseases have higher comorbidity with cancer. A new @science.org study however found that the 4H2 autoantibody, derived from lupus, may help target cancer cells. This surprising link could open the door to a new class of promising treatment strategies bridging autoimmunity and oncology.
A study from Yale researchers links persistent spike protein to post-COVID-19 vaccination syndrome, using data from 42 patients and 22 controls. Other findings include immune dysregulation, Epstein-Barr virus reactivation (also linked to #MECFS and #LongCovid), and neuromodulatory deficiencies.
Immunological and Antigenic Signatures Associated with Chronic Illnesses after COVID-19 Vaccination
COVID-19 vaccines have prevented millions of COVID-19 deaths. Yet, a small fraction of the population reports a chronic debilitating condition after COVID-19 vaccination, often referred to as post- va...
www.medrxiv.org
April 5, 2025 at 6:59 AM
A study from Yale researchers links persistent spike protein to post-COVID-19 vaccination syndrome, using data from 42 patients and 22 controls. Other findings include immune dysregulation, Epstein-Barr virus reactivation (also linked to #MECFS and #LongCovid), and neuromodulatory deficiencies.
New AI tools like InstaNova are transforming protein sequencing by rapidly identifying proteins, even unknown ones, from mass spec data. AI’s efficiency surpasses traditional methods, unlocking insights into millions of protein variations.
The AI revolution comes to protein sequencing
New systems can identify unknown proteins in samples from diseased tissue, the environment, and archaeological sites
www.science.org
April 2, 2025 at 2:33 AM
New AI tools like InstaNova are transforming protein sequencing by rapidly identifying proteins, even unknown ones, from mass spec data. AI’s efficiency surpasses traditional methods, unlocking insights into millions of protein variations.
Columbia’s Center for Solutions for ME/CFS, a key research hub, has to halted its work due to Trump-era funding cuts, stalling clinical progress.
#MECFS remains severely underfunded—NIH allocated just 3-7% of typical disease funding (2015-2019). Urgent investment is needed.
#MECFS remains severely underfunded—NIH allocated just 3-7% of typical disease funding (2015-2019). Urgent investment is needed.
'It's just ugly': Federal funding cuts to Columbia University leave chronic fatigue syndrome research in limbo
Earlier this month, Ian Lipkin, M.D., and his team at Columbia University submitted a paper for publication that suggests certain approved drugs could possibly be repurposed for a severe fatigue co | ...
www.fiercebiotech.com
March 31, 2025 at 5:42 PM
Columbia’s Center for Solutions for ME/CFS, a key research hub, has to halted its work due to Trump-era funding cuts, stalling clinical progress.
#MECFS remains severely underfunded—NIH allocated just 3-7% of typical disease funding (2015-2019). Urgent investment is needed.
#MECFS remains severely underfunded—NIH allocated just 3-7% of typical disease funding (2015-2019). Urgent investment is needed.
#LongCovid affects doctors too. GP Dr. Ben Sinclair, a former triathlete, battled severe fatigue and brain fog. Now, he’s using his experience to help others, launching one of the UK’s first online long Covid clinics focused on gut health, mental well-being, and patient-centered care.
‘I was bed bound with long Covid but as a GP I found strategies for me and my patients to cope’
Dr Ben Sinclair battled long Covid before opening specialist clinics to help other sufferers
www.telegraph.co.uk
March 31, 2025 at 5:29 PM
#LongCovid affects doctors too. GP Dr. Ben Sinclair, a former triathlete, battled severe fatigue and brain fog. Now, he’s using his experience to help others, launching one of the UK’s first online long Covid clinics focused on gut health, mental well-being, and patient-centered care.
Reposted by Yong Li
We are proud to announce Bing Ren, PhD, as the new Scientific Director & CEO of the New York Genome Center
Dr. Ren brings his expertise in the fields of genomics & epigenetics to the NYGC & Columbia University, where he will hold a joint appointment.
For more on Dr. Ren: bit.ly/3DJXtah
Dr. Ren brings his expertise in the fields of genomics & epigenetics to the NYGC & Columbia University, where he will hold a joint appointment.
For more on Dr. Ren: bit.ly/3DJXtah
Bing Ren Appointed Scientific Director and Chief Executive Officer of the New York Genome Center - March 27, 2025
Read about Bing Ren Appointed Scientific Director and Chief Executive Officer of the New York Genome Center at the New York Genome Center on March 27, 2025
bit.ly
March 27, 2025 at 4:02 PM
We are proud to announce Bing Ren, PhD, as the new Scientific Director & CEO of the New York Genome Center
Dr. Ren brings his expertise in the fields of genomics & epigenetics to the NYGC & Columbia University, where he will hold a joint appointment.
For more on Dr. Ren: bit.ly/3DJXtah
Dr. Ren brings his expertise in the fields of genomics & epigenetics to the NYGC & Columbia University, where he will hold a joint appointment.
For more on Dr. Ren: bit.ly/3DJXtah
A @naturerevgenet.bsky.social article by Fu et al. reviews how long-read sequencing advances DNA #methylation analysis, aiding insights into gene regulation & disease. It discusses computational tools for methylation detection and genomic integration, highlighting challenges and future directions.
Computational analysis of DNA methylation from long-read sequencing - Nature Reviews Genetics
Long-read sequencing technologies can directly profile methylation modifications across the genome. In this Review, Fu et al. overview the long-read computational tools to identify and compare methyla...
www.nature.com
March 31, 2025 at 4:45 AM
A @naturerevgenet.bsky.social article by Fu et al. reviews how long-read sequencing advances DNA #methylation analysis, aiding insights into gene regulation & disease. It discusses computational tools for methylation detection and genomic integration, highlighting challenges and future directions.
A study using All of Us data revealed that among 60,135 cancer patients, 73% had a family history, yet only 281 (0.5%) had documented genetic testing.
There’s significant room to enhance #PrecisionOncology by improving EHR data standardization, documentation, and access to genetic testing.
There’s significant room to enhance #PrecisionOncology by improving EHR data standardization, documentation, and access to genetic testing.
March 22, 2025 at 7:27 PM
A study using All of Us data revealed that among 60,135 cancer patients, 73% had a family history, yet only 281 (0.5%) had documented genetic testing.
There’s significant room to enhance #PrecisionOncology by improving EHR data standardization, documentation, and access to genetic testing.
There’s significant room to enhance #PrecisionOncology by improving EHR data standardization, documentation, and access to genetic testing.
Homo sapiens arrived in Europe 50,000–60,000 years ago with dark skin, hair, and eyes, says Ghirotto. Lighter traits appeared 14,000 years ago but stayed rare until 3,000 years ago. In some areas, dark skin lasted into the Copper Age. A striking selective sweep on skin color—surprised?
Turns out, most ancient Europeans had dark skin, hair, and eyes until about 3,000 years ago. DNA is rewriting everything we thought we knew—history keeps proving itself stranger than old assumptions. 🧬⏳ #AncientDNA #HumanHistory #Genomics #Archaeology
Most ancient Europeans had dark skin, eyes and hair up until 3,000 years ago, new research finds
A new study charts the genetics of skin, hair and eye color in Europe over 45,000 years.
www.livescience.com
March 15, 2025 at 5:41 PM
Homo sapiens arrived in Europe 50,000–60,000 years ago with dark skin, hair, and eyes, says Ghirotto. Lighter traits appeared 14,000 years ago but stayed rare until 3,000 years ago. In some areas, dark skin lasted into the Copper Age. A striking selective sweep on skin color—surprised?
A @newscientist.com article: AI scientists are sceptical that modern models will lead to AGI.
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this goal
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this goal
AI scientists are sceptical that modern models will lead to AGI
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this go...
www.newscientist.com
March 15, 2025 at 5:15 PM
A @newscientist.com article: AI scientists are sceptical that modern models will lead to AGI.
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this goal
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this goal
Easy-to-use software & reproducible code are key for precision medicine adoption.
A new Tumor Molecular Pathology Toolkit published in Cancer Cell aims at assigning TCGA tumor subtypes to new samples, improving cancer subtyping in clinics & aiding treatment selection.
#PrecisionOncology
A new Tumor Molecular Pathology Toolkit published in Cancer Cell aims at assigning TCGA tumor subtypes to new samples, improving cancer subtyping in clinics & aiding treatment selection.
#PrecisionOncology
Classification of non-TCGA cancer samples to TCGA molecular subtypes using compact feature sets
Ellrott et al. provide a means to assign patient samples from clinical trials and
other cancer genome studies to published TCGA molecular subtypes. Applying machine
learning to data from five differen...
www.cell.com
March 8, 2025 at 6:54 PM
Easy-to-use software & reproducible code are key for precision medicine adoption.
A new Tumor Molecular Pathology Toolkit published in Cancer Cell aims at assigning TCGA tumor subtypes to new samples, improving cancer subtyping in clinics & aiding treatment selection.
#PrecisionOncology
A new Tumor Molecular Pathology Toolkit published in Cancer Cell aims at assigning TCGA tumor subtypes to new samples, improving cancer subtyping in clinics & aiding treatment selection.
#PrecisionOncology