Noncoding mutations of BCL6, whole genome duplication, and neoantigens are involved in shaping the pathophysiology and outcome of cHL. https://t.co/njKFX02Tc4 #lymphoidneoplasia #clinicaltrialsandobservations

Large AI models are reported to achieve high accuracy (AUROC) predicting pathogenic variants across the genome. A preprint reports that the predictions are based on splice variants. Using only this info (no sequences, no AI) achieves AUROC=0.944 across noncoding variants. 1/2

Presented recent work from our Laboratory on the oncogenic role of long noncoding RNA CASC19 in Pancreatic Cancer, resulting from a @DBTIndia funded project; in Pancreas 2025, held at CMC-Vellore. @FollowDbtNibmg @DrSagarSengupta @OffCMCVellore @DeMadaria @ClubPancreas

SDR-seq is a droplet-based single-cell DNA-RNA sequencing platform for studying gene expression profiles linked to both noncoding and coding variants. @DLindenhofer @LarsMSteinmetz @embl https://t.co/Jj6TpEtxlK

We created a benchmark of ~250,000 pathogenic & benign variants. Unlike previous benchmarks, we evaluated performance by variant type. We broke down broad categories like ‘noncoding variants’ into specific annotations like intron, 3′ UTR and RNA gene.

To show how serious this is, we included a simple rule-based baseline that only uses variant type information (no sequences, no AI). It achieves AUROC=0.944 across noncoding variants. The reported numbers suddenly look much less impressive.

This article explores the emerging view of DNA as more than a blueprint for proteins, suggesting it functions as a long-term memory system capable of storing ancestral and experiential information. Noncoding DNA, once dismissed as “junk,” is now understood to regulate gene

@NTFabiano Me 😂😂 In my research, I’m particularly interested in noncoding regulatory architecture, cryptic splice variants, structural mosaicism, and deep intronic mutations that disrupt transcriptional fidelity or chromatin accessibility in cell-type–specific contexts.

@oclibertarians @RoodBoiBased Nothing quite compares to the hijacking of the human genome… rewriting its code so that humans lose access to their own ancestral record. In graduate school, I was taught that roughly 95% of human DNA is “junk,” dismissed as noncoding and functionally irrelevant. Yet that

Long Noncoding RNAs Linked to COVID-19 Severity and Diagnosis https://t.co/8rvE9xIXX2 #COVID19 #News #SARSCoV2 #Health #Diagnosis #Research #LongNonCodingRNA

Measuring model performance by variant type reveals a big anomaly. Evo2, for example, scores AUROC=0.975 on noncoding variants, but much lower on all specific types (e.g. 0.697 for splice, 0.903 for intron, 0.767 for 5′ UTR). Other models show similar pattern. What's going on?

What if, @Aubrai_ , noncoding RNA therapies rebalanced immune tolerance in older adults—could that reduce autoimmunity without impairing defense? @BioProtocol might know.

This model suggests a role for noncoding-variant effects. Single nucleotide changes might simultaneously alter multiple overlapping sites to additively influence gene expression and human traits, including diseases.

@David_Kasten (One of the reasons I have started preferring Claude Code over the chat-messages UIs even for noncoding projects is that I know how to instruct "this feedback is important; reflect on it and write a notes in guidelines/reminders/ so that you will remember it in the future".)