🎧 New LASI‑DAD WGS resource: 2,680 Indian genomes form a 69.5M-variant LD panel that boosts imputation accuracy and PRS performance for Indian populations https://basebybase.com/episodes/lasi-dad-india-reference-panel @hggadvances.bsky.social

🎧 New episode: PANDORA-seq finds a conserved rsRNA length shift and a tsRNA/rsRNA 'aging cliff' in mouse & human sperm; age-mimicking sncRNAs reprogram embryonic metabolic pathways. Listen https://basebybase.com/episodes/sperm-rsrna-length-shift

🎧 New PaperCast: SNIPE, a membrane-bound nuclease in E. coli, cleaves incoming phage λ DNA during genome injection via ManYZ and TMP interactions — listen https://basebybase.com/episodes/snipe-membrane-nuclease-phage-injection @nature.com

🎧 New study links biallelic SAXO6 loss-of-function, a microtubule inner protein of photoreceptor cilia, to late-onset retinal dystrophy — Listen now https://basebybase.com/episodes/saxo6-photoreceptor-mip-retina @ajhgnews.bsky.social

🎧 New Nature study uses MPRA and saturation mutagenesis in human cells to functionally map 13,121 trait-associated regulatory variants and reveal TF mechanisms and epistasis https://basebybase.com/episodes/mpra-human-regulatory-variants @nature.com

🎧 New episode: Bayesian analysis of deep Utah pedigrees finds a patrilineal Y‑chromosome lineage with ~67% male offspring, consistent with segregation distortion. Listen https://basebybase.com/episodes/human-y-chromosome-drive

🎧 New PaperCast episode: how short-read sequencing and genome skimming unlock scalable biodiversity monitoring, museum genomics, and phylogenomics — Listen now https://basebybase.com/episodes/short-read-genome-skimming

🎧 A special tribute episode honoring Prof. Dr. Brunhilde Wirth and her extraordinary career in human genetics and SMA research. With great and many thanks for decades of scientific rigor and impact. 🔗 basebybase.com/episodes/smn...

🎧 A special tribute episode honoring Prof. Dr. Brunhilde Wirth and her extraordinary career in human genetics and SMA research. With great and many thanks for decades of scientific rigor and impact. 🔗 basebybase.com/episodes/bru...

🎧 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 https://basebybase.com/episodes/biobank-mendelian-randomization-targets @hggadvances.bsky.social

🎧 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 https://basebybase.com/episodes/ebv-mhc-class-ii @nature.com

🎧 New PaperCast: Encephalopathy-linked UFM1 variants impair neuronal translation and synapse development, while Trazodone rescues translation in UFM1-R81C neurons @embomolmed.embo.org https://basebybase.com/episodes/ufm1-r81c-neuronal-translation

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

🎧 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.bsky.social https://basebybase.com/episodes/fsd1l-microtubule-ciliogenesis

🎧 snaR-A binds U2 snRNP subunit SF3B2, driving intron retention and proliferation in human cells — we unpack the splicing mechanism and cancer links @natcomms.nature.com @natureportfolio.nature.com @vanbortlelab.com https://basebybase.com/episodes/snar-a-sf3b2-splicing

🎧 New PaperCast: Large-scale exome sequencing finds CFTR risk variants including deltaF508 reduce IBD risk and highlight challenges in variant prioritization. Listen https://basebybase.com/episodes/cftr-deltaf508-ibd-protection

🎧 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 https://basebybase.com/episodes/alternative-splicing-exonization-evolution

🎧 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 https://basebybase.com/episodes/indellm-indel-siamese-model

🎙️Listen to @basebybase.bsky.social to learn more about the latest work from Wirth & colleagues!

🎧 New PaperCast: INS R6C causes recessive insulin-deficient diabetes via impaired preproinsulin ER translocation; iPSC-derived βcell and population data clarify heterozygote risk https://basebybase.com/?episode=292-ins-r6c-signal-peptide-defect-reduces-preproinsulin-er-t-vf8bv9

🎧 New PaperCast: Relaxed-clock dating of pre-LECA gene duplications shows an Asgard archaeal host with cytoskeleton, endomembrane system and nucleus before mitochondrial acquisiti… https://basebybase.com/?episode=291-dated-gene-duplications-show-asgard-archaeal-host-comple-605svf

🎧 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… https://basebybase.com/?episode=290-smn1-p-arg288alafster5-exon-7-deletions-evade-pcr-newbor-z64oqq

🎧 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 https://basebybase.com/?episode=289-minion-detection-of-chimeric-reads-in-murine-ifna-ifnb-a-19p2jwz

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/7G8enP...

🎧 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 https://basebybase.com/?episode=288-cryo-em-of-rat-cerebellar-1-6-gabaa-receptors-reveals-pz-1hyyneq

🎧 New PaperCast episode: EPOP and MTF2 tune PRC2 activity via GA- and GCN-rich linker DNA to direct de novo H3K27me3 deposition in mESCs — Listen now https://basebybase.com/?episode=287-epop-and-mtf2-modulate-prc2-h3k27me3-deposition-via-ga-a-14vo9wa

🎵 open.spotify.com/track/30OmCJ... 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/4cN9TD... Chromosomes don’t act randomly — they follow hidden rhythms to stay organized. This song came from that idea ✨

The Mani Peninsula, off the southern coast of Greece, is home to a group of genetically isolated people called Deep Maniots. A new DNA analysis links them to Greece’s premedieval past. Learn more: https://scim.ag/4qrtW7k

In the latest Science Sessions episode, Lauren Meyers of UT Austin discusses lessons from the 2022-2023 influenza season on the effectiveness of flu vaccines. Listen now: https://ow.ly/iCVJ50YcoK8

🎧 Featured this @pnas.org paper on Base by Base—bringing peer-reviewed findings to broader audiences and helping expand the reach of CC BY science. basebybase.com?episode=286-...

🎧 Deep mutational scanning maps ~8,500 mutations in the Nipah virus fusion protein F, revealing constrained fusion-peptide interfaces and antibody-escape sites — listen https://basebybase.com/?episode=286-deep-mutational-scanning-of-nipah-virus-fusion-protein-f-w7vsbc

Thanks to @basebybase.bsky.social for covering our @ajhgnews.bsky.social paper on genetic literacy! Great summary of how people understand and relate to genetics.

🎧 New PaperCast: ESBX (Tb927.3.1660) in Trypanosoma brucei links RNA Pol I localization at the ESB to activation of the active BES and repression of inactive BESs, revealing a key… https://basebybase.com/?episode=285-esbx-tb927-3-1660-integrates-esb-rna-pol-i-localization--4uuaqp

🎧 New PaperCast: Integrative VSMC genomics and pooled CRISPR nominate pleiotropic vascular genes; FES loss raises MMPs, atherosclerosis and blood pressure — listen https://basebybase.com/?episode=284-fes-vsmc-behavior-and-pleiotropic-vascular-genes-identif-1txvz8x

🎧 New PaperCast: 'Interaction of identity and beliefs with genetic literacy' — a GALS survey of >4,000 US participants finds confidence in genetic knowledge explains ~25% of lite… https://basebybase.com/?episode=283-confidence-in-genetic-knowledge-drives-familiarity-knowl-17ljvj2

🎧 New episode: TWAS inflation from polygenicity scales with GWAS sample size and heritability; Liang et al. introduce a gene-specific variance-control in PrediXcan that calibrate… https://basebybase.com/?episode=282-gene-specific-variance-control-corrects-polygenicity-dri-119r3op

🎧 New episode: Di Donato et al. map 290 ACTB/ACTG1 cases into eight non-muscle actinopathies and link BWCFF variants to altered actin polymerization — clinical and biochemical imp… https://basebybase.com/?episode=281-variant-level-mapping-of-actb-and-actg1-defines-eight-no-sf89fz

🎧 Twin models, GWAS, RNA-seq and methylation in 569 TwinsUK adipose biopsies implicate SCD, FADS and a 3p25.2 (PPARG) locus in regulating fatty acid composition https://basebybase.com/?episode=280-scd-fads-and-a-3p25-2-pparg-locus-shape-fatty-acid-compo-1t00df

🎧 New episode: Guest et al. warn universities that uncritical adoption of AI—LLMs, chatbots, closed-source tools—erodes academic freedom, integrity, and skills. Hear the evidence… https://basebybase.com/?episode=279-against-the-uncritical-adoption-of-ai-in-universities-ll-tq9y7x

🎧 New episode: how FTC scrutiny of Illumina’s acquisition of Grail and evolving merger guidelines could reshape NGS markets, spin-offs, and startups in human genetics https://basebybase.com/?episode=278-illumina-grail-and-ftc-scrutiny-of-vertical-mergers-in-h-1t13yfv

🎧 New PaperCast episode: MDGA2 homozygous loss-of-function variants linked to autosomal-recessive developmental and epileptic encephalopathy; exome sequencing and neuronal assays… https://basebybase.com/?episode=277-mdga2-homozygous-loss-of-function-variants-in-developmen-90a0xz

🎧 New episode: AlphaGenome — a 1 Mb multimodal DNA model predicts base‑pair‑resolution genome tracks and variant effects across splicing, expression and chromatin, matching or ex… https://basebybase.com/?episode=276-alphagenome-1-mb-multimodal-deep-model-predicts-regulato-1e4sixp

🎧 PaperCast Base by Base: MIPseq/WES of 11,555 CHD probands implicates 60 dominant genes; NOTCH1 cysteine‑altering and transmitted MYH6 missense variants highlight mechanistic sub… https://basebybase.com/?episode=275-mipseq-wes-of-11-555-chd-probands-implicates-60-dominant-cxasq3

This was a really great podcast that explains a scientific discovery about a cause of Retinitis Pigmentosa in a really clear way. The discovery has implications for other causes of blindness and possibly even neurodegenerative diseases like Alzheimer’s disease. #RP

🎧 AAV delivery of MCT2 to the RPE increases lactate uptake and prolongs cone survival and function across RP models — listen for the mechanisms and FLIM data https://basebybase.com/?episode=274-rpe-specific-mct2-gene-delivery-preserves-cones-and-visi-1vgo8ej

🎧 New episode: CTVT-A captured a 15-Mb dicentric nuclear fragment (N-HT1) from a donor dog ~2,000 years ago; N-HT1 is transcriptionally active but appears selectively neutral https://basebybase.com/?episode=273-ctvt-a-acquires-15-mb-n-ht1-dicentric-nuclear-element-vi-23fpie

🎧 New PaperCast: Modern-human ADSL changes (A429V and regulatory haplotype) reduced enzyme activity, raised purine substrates in brain and altered female mouse water-seeking behav… https://basebybase.com/?episode=272-adsl-a429v-reduces-purine-biosynthesis-in-brain-and-alte-hm3a9a

🎧 New episode: EA PGI associations with years of education rose across UK birth cohorts 1946–1970 and were amplified in advantaged families — methods and implications discussed https://basebybase.com/?episode=271-rising-ea-pgi-prediction-of-educational-attainment-acros-1f9zw8k

🎧 Single-molecule optical tweezers reveal human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negative DNA supercoils faster than PICH loop lifetimes, informing UFB res… https://basebybase.com/?episode=270-human-topoisomerase-iii-rmi1-rmi2-trr-processively-relax-1drah96