basebybase

🧬 New from Adhikari et al! 📄 Bayesian Mendelian Randomization methods for Index Trait Bias correction in subsequent trait genome-wide association studies 👉 bit.ly/40FTUcW

🎧 New PaperCast: MVP + UK Biobank + FinnGen + MR with eQTL/pQTLs identify 69,669 causal gene-trait links and prioritize targets (AUC PR 0.79), including ANXA2 for lipids basebybase.com/episodes/bioba… @HGGAdvances

🎧 Episode 300: Population-scale WGS from UK Biobank and All of Us finds HLA/MHC class II antigen presentation predicts persistent EBV DNA and links to disease — listen basebybase.com/episodes/ebv-m… @NaturePortfolio

🎧 New PaperCast: Encephalopathy-linked UFM1 variants impair neuronal translation and synapse development, while Trazodone rescues translation in UFM1-R81C neurons @EmboMolMed basebybase.com/episodes/ufm1-…

🎧 New episode: Bi-allelic FSD1L variants linked to retinitis pigmentosa—exon 10b mis-splicing and axoneme localization suggest trafficking defects; Listen now @AJHGNews basebybase.com/episodes/fsd1l…

🎧 New PaperCast episode: Bi-allelic FSD1L variants disrupt a microtubule-associated protein causing hydrocephalus and callosal defects; mouse and iPSC studies show impaired ciliogenesis and neur… @ajhgnews basebybase.com/episodes/fsd1l…

🎧 snaR-A binds U2 snRNP subunit SF3B2, driving intron retention and proliferation in human cells — we unpack the splicing mechanism and cancer links basebybase.com/episodes/snar-… @natureportfolio

🎧 New PaperCast: Large-scale exome sequencing finds CFTR risk variants including deltaF508 reduce IBD risk and highlight challenges in variant prioritization. Listen basebybase.com/episodes/cftr-…

🎧 New PaperCast: Large-scale exome sequencing finds CFTR risk variants including deltaF508 reduce IBD risk and highlight challenges in variant prioritization. Listen basebybase.com/episodes/cftr-…

🎧 New PaperCast episode: how alternative splicing, exonization and long-read RNA‑seq reveal mechanisms linking AS (PTBP1, MAPT, IFNAR2) to lineage-specific traits — Listen now basebybase.com/episodes/alter…

BOTH papers are featured in @BasebyBasePod this week! basebybase.com/episodes/fsd1l… basebybase.com/episodes/fsd1l…

🎧 New PaperCast: IndeLLM uses ESM2 protein language models to map and predict in-frame indels; a compact Siamese model reaches MCC 0.77 and tools are on GitHub/Colab basebybase.com/episodes/indel…

🎧 New PaperCast: INS R6C causes recessive insulin-deficient diabetes via impaired preproinsulin ER translocation; iPSC-derived βcell and population data clarify heterozygote risk basebybase.com/?episode=292-i…

🎧 New PaperCast: Relaxed-clock dating of pre-LECA gene duplications shows an Asgard archaeal host with cytoskeleton, endomembrane system and nucleus before mitochondrial acquisiti… basebybase.com/?episode=291-d…

🎧 Two newborns with SMN1 exon 7 4-bp deletions (p.Arg288AlafsTer5) escaped PCR SMA screening but express a functional SMN protein that rescues smn1-deficient zebrafish and avoided… basebybase.com/?episode=290-s…

🎧 MinION amplicon sequencing of murine Ifna/Ifnb and Actb reveals ~1.7% post-amplification chimeric reads linked to ligation conditions; long reads aid detection and filtering basebybase.com/?episode=289-m…

🎧 New episode: cryo-EM and proteomics reveal α1/α6-containing GABAA receptor assemblies in rat cerebellum and the PZ-II-029 binding mode at α+/γ− sites basebybase.com/?episode=288-c…

Deep inside the brain, lipid signals silently decide how neurons live and fade. We turned that hidden story into a song ✨ open.spotify.com/track/7G8enPjB…

We introduce a new method, EmbedOpt, for robustly steering protein sequence-to-structure diffusion models to fit experimental data (Cryo-EM, NMR) without training. 🧬📉 @mhli41 @JiequnH @PilarCossio2 EmbedOpt tackles the brittleness of the previous coordinate-space steering methods by optimizing the conditional embedding instead. These embeddings capture rich co-evolutionary signals in protein diffusion models—unlocking a new, robust and semantically meaningful diffusion steering axis. 🚀 Result: Better fitting, wider hyperparam stability, and efficiency enabled by fewer diffusion steps 📄 Preprint: arxiv.org/abs/2602.05285

Beneath the noise of millions of genomes, there are quiet signals shaping how our bodies work. This song came from that idea ✨ 🎵 open.spotify.com/track/30OmCJbb…