All Episodes

459: Cerebral palsy genetics: 515 candidate genes, evidence for 89

458: Somatic or inherited? Reading TP53 risk from shared DNA

457: A deletion that raises Alzheimer risk, a duplication that lowers it

456: Beyond exons: where heritability hides as traits get more polygenic

455: Agentic genomics: the bottleneck moves from code to judgment

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

453: Efavirenz slows sCJD progression by reshaping brain cholesterol

452: Reduzir a PrP funciona em todas as linhagens [PT]

451: Prion protein lowering is disease-modifying across stages and strains

450: ASOs que reduzem PrP prolongam a sobrevida [PT]

449: siRNA divalente para doença priônica [PT]

448: PrP‑lowering ASOs prolong survival in prion‑infected mice

447: Divalent siRNA for prion disease

446: Cilia, Synuclein, and Survival: G51D Mice Reveal a Shared Parkinson’s Pathway

445: Why Thymine Survived the UV: Photodamage Pathways Explained

444: Many-eyes or Sentinels? How Cost Curvature Shapes Collective Vigilance

443: 5D‑ASO boosts exon 51 skipping and restores dystrophin in DMD models

442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

441: Evolutionary mapping of Cav1.3 functional sites

440: DENV-4: Suppressing DNA Repair and Causing Genome Damage

439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

437: Cell villages and Dirichlet modeling map human cell fitness genetics

436: KIAP4 and the ARND family: building the Leishmania adhesion plaque

435: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

434: High‑coverage genomes recast Japan's prehistoric demography

433: Lactate, HSP90α and the Mitochondrial Switch

432: Echovirus 18: Capsid opening releases the genome

431: KIAP4 and the ARND family: essential proteins for Leishmania–sand fly adhesion

430: Proterozoic Rise: Steady Diversification of Crown Eukaryotes

429: Validating the EAGL genetic literacy measure

428: Genetic regulation of plasma metabolites in people with HIV

427: When Genes Talk to Gut: Microbiome as Mediator of Metabolic Risk

426: ProtoCloud — Prototypical self-explaining model for single-cell analysis

425: BEAM: Bayesian reconstruction of metastatic migration histories

424: LECA's Ancient Interactome and Modern Disease

423: How GRN Topology Shapes the Genetic Architecture of Expression

422: Germline rDNA Variants and Human Complex Traits

421: Pre-existing Cell States Predict Multi-Treatment Resistance

420: NOTCH2NL duplications: diversity, regulation, and human-specific changes

419: The Single-Cell Pediatric Cancer Atlas

418: Translating GWAS Across Scales

417: Hidden Mosaic: Parental Postzygotic Mutations in 12,015 Trios

416: HGT-chimeras: fusion across the tree of life

415: ERG Unlocked: Targeting the PNT Domain with PBITE-1

414: Durability of Cas9 Gene Drives in Anopheles: A 2‑Year Cage Study

413: Rpc34 WH2 dynamics in RNA polymerase III

412: Fault Lines in Forensic Proficiency Testing

411: EKV cells and the Human Prion Assay: a scalable platform for sCJD infectivity

410: Nucleotide diversity is a poor predictor of short-term adaptive potential

409: A systems-level atlas of carbon-response transcriptional states in Escherichia coli

408: Tau, mitochondria, and the fusion switch

407: SLC11A2 withholds metals from Salmonella in the gut epithelium

406: Temperature & Age Shape Gut Susceptibility to HCoV-229E

405: PRDM9 and the Hotspot Trade-off

404: RUNA Reveals Surface DNA on Exosomes

404: HRD-GIS refines BRCA1/2 variant classification in ovarian cancer

403: HRD-GIS Evidence for BRCA1/2 Variant Classification

402: When Polygenic Scores Miss: Rare Variants in Misaligned Individuals

401: LDB1 variants split neurodevelopmental outcomes by location and mechanism

400: Complete chromosome 21 centromere sequencing and Down syndrome

399: Ménière disease: inner ear development and retinoic acid pathways

398: Modeling JAK2V617F Clonal Expansion in the General Population

397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing

396: Physical homology recognition between DNA duplexes

395: Extended sequence context shapes mutational bias in Escherichia coli

394: Benchmarking LLMs for cfRNA biomarker discovery

393: Hidden Resistance: tNGS Reveals Rifampicin and Bedaquiline Resistance in Eswatini

392: GWAS of Cocaine Self-Administration in Heterogeneous Stock Rats

391: The Kaufmann Protocol — Why We Age and How to Stop It

390: Daunorubicin, Mutual Destruction, and Layered Antiphage Defense

389: Crotonylation impedes c-Myc oncogenic activity

388: Base by Base | Episode 388 — In situ CAR‑macrophage alleviates liver fibrosis

387: Homotypic Dengue Reinfections and Long-Term Antibody Decay

386: Genome Doubling and the Bioeconomy

385: Growth under Pressure: Polyploidy Induced by Stress

384: RNA Brake on Cholera Phage: CisR Controls CTXϕ

383: Genetics of the Circulating Proteome: pQTLs, Pathways, and Disease Links

382: How animal blood cells evolved from unicellular ancestors

381: Light-written spatial barcodes enable tunable multiomic sequencing (BALI)

380: Prime-SGE maps drug-resistance variants at scale

379: Long reads reveal hidden structural and repeat variation in autism

378: Dominant-negative PSMB8 variants stall immunoproteasome assembly

377: ProteomeLM — proteome-scale language modeling for interactomes and essential genes

376: Pfh1's Balancing Act: Unwinding, Rewinding, and the Role of Mitochondrial SSB

375: Biallelic DSCAM LoF: a syndromic NDD with nystagmus and cone-pathway retinal dysfunction

374: DNA-guided Cas12a reprogrammed to target RNA

373: Base by Base 373 — A ciliate rewrites UAA and UAG

372: Genes, IQ and Socioeconomic Outcomes in Emerging Adults

371: Glial epigenomic dysregulation and genetic risk in tauopathies

370: ICMT and INPP5E enable BRAFV600E tumor growth

369: NEK2 drives EBV-positive NHL pathogenesis

368: PARP1 and Amyloid: Protecting Neurons in a Familial AD Model

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

366: BRCA1P1 suppresses antiviral and antitumor immunity

365: MEN1 mutations and menin inhibitor resistance

364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link

363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

360: An inverse correlation between structural linguistic and human genetic diversity

359: Ultrapotent PDCoV Miniprotein MB11

358: CHCHD4 and a Pediatric OXPHOS Collapse

356: Recessive Coding Associations Across Six Biobanks

355: Influenza D replicates in the human airway — zoonotic risk

354: How Cohesin Acetylation and ATPase Shape Chromatin Loops and Cohesion

353: Masculinization Reverses Sex Differences in Fertility

338: WDHD1 and Microcephalic Primordial Dwarfism

337: ND-CNVs and internalizing–cardiometabolic multimorbidity

336: Measuring disease likelihood in genomic ascertainment

335: Altai Neandertal Genome Reveals Deep Population Structure

334: LINE-1 Recombination with Diverse RNAs

333: Holistic determination of cfDNA ends

332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction

331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy

330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation

329: Large future genetic diversity losses predicted despite habitat protection

328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization

327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development

326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis

325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes

324: ZSWIM8–CUL3 clamp on AGO2–miR-7 reveals mechanism of targeted microRNA degradation

323: Meat consumption and APOE ε3/ε4–ε4/ε4: slower cognitive decline and lower dementia risk in SNAC‑K

322: Bi-allelic RNU6ATAC and RNU4ATAC variants cause infancy-onset autoimmune diabetes via minor spliceosome U12 intron retention

321: All five canonical nucleobases detected in Ryugu samples

320: Sex-stratified cQTL mapping identifies TOX (IFN-γ) and EGFR (IL-10) regulators in Dutch and Tanzanian cohorts

319: Predicting reduced-penetrance TP53 variants from functional assays and random forest models

318: RNU6ATAC variants cause U6atac-driven minor spliceopathy with transcriptome-wide minor intron retention

317: COPD sQTL colocalization in lung and blood identifies FBXO38 and BTC splicing mechanisms

316: Inclusion bias in UCLA ATLAS: enrollment models, weighting, and effects on GWAS and PGS

315: PLE11-encoded Rta restricts ICP1 tail assembly in Vibrio cholerae outbreaks

314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS

313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations

312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation

311: mtG3PDH (GPO1) loss in Drosophila impairs mitochondrial ATP/O, O2 consumption, and ROS

310: Infant gut microbiota restoration — maternal FMT, Bifidobacterium and Bacteroides recovery after C‑section

309: LASI-DAD 2,680-sample WGS panel boosts LD maps, imputation, and PRS in Indian genomes

308: PANDORA-seq reveals conserved rsRNA length shift and tsRNA/rsRNA aging cliff in mouse and human sperm

307: SNIPE membrane nuclease cleaves phage λ DNA during ManYZ-mediated genome injection in Escherichia coli

306: SAXO6 loss-of-function in photoreceptor cilia links a microtubule inner protein to late-onset retinal dystrophy

305: Human cis-regulatory variants dissected by MPRA at single-nucleotide resolution

304: Patrilineal Y‑chromosome drive in a Utah pedigree (67% male offspring)

303: Short-read sequencing and genome skimming for biodiversity monitoring and phylogenomics

302 auf Deutsch: SMN1/SMN2-Spleißen und Mechanismen im letzten Exon — Hommage an Brunhilde Wirth

302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth

301: Biobank Mendelian randomization prioritizes 6,447 genes and nominates ANXA2 for dyslipidemia

300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA

299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis

298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme

297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder

296: snaR-A ncRNA antagonizes U2 snRNP SF3B2 to drive intron retention in human cells

295: CFTR deltaF508 and CF-risk variants protect against IBD in large exome study

294: Alternative splicing, exonization and lineage-specific isoforms: PTBP1, MAPT and TE-derived exons in mammalian evolution

293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)

292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells

290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

290 auf Deutsch: SMN1-Exon-7-Deletionen p.Arg288AlafsTer5 entgehen dem PCR-Neugeborenenscreening und erzeugen dennoch eine funktionelle SMN-Isoform

289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

284: FES, VSMC behavior and pleiotropic vascular genes identified by integrative functional genomics

283: Confidence in genetic knowledge drives Familiarity, Knowledge, and Skills in US GALS samples

282: Gene-specific variance-control corrects polygenicity-driven inflation in TWAS

281: Variant-level mapping of ACTB and ACTG1 defines eight non-muscle actinopathies and links BWCFF to actin polymerization defects

280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty acid composition in human subcutaneous adipose tissue

279: Against the Uncritical Adoption of AI in Universities: LLMs, Chatbots, and Academic Integrity (Guest et al.)

278: Illumina, Grail and FTC scrutiny of vertical mergers in human genetic technologies

277: MDGA2 homozygous loss-of-function variants in developmental and epileptic encephalopathy

276: AlphaGenome: 1-Mb multimodal deep model predicts regulatory variant effects including splicing and TAL1 mechanisms

275: MIPseq/WES of 11,555 CHD probands implicates 60 dominant genes with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants

274: RPE MCT2: A metabolic gene-agnostic approach to preserve cones in RP

273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear element via horizontal transfer

272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior

271: Rising EA PGI prediction of educational attainment across 1946–1970 British birth cohorts and socioeconomic interaction

270: Human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negatively supercoiled DNA measured by optical tweezers

269: Mlh1–Pms1 endonuclease creates single-strand gaps to excise mispairs in S. cerevisiae MMR

268: M493I in human β-cardiac myosin: SRX disruption, slow ADP release, and enhanced actin attachment

267: DNA base-pair opening modes and soliton-like loops revealed by hydrogen exchange

266: TOP1α and TOP3β Differentially Regulate HPV31 Replication via R-loops and DNA Breaks

265: ANTSR lncRNA and the conserved multiallelic sex-determining locus across Aculeata

264: Single-TF rejuvenation: EZH2, E2F3, STAT3, ZFX identified by TRDP/Perturb-seq rejuvenate human fibroblasts and mouse liver

263: Bifacial γPNA triplets target rCUG repeats and displace MBNL1 in Myotonic Dystrophy type 1

262: Human Langerhans cells reprogrammed by tick saliva (CXCR4/CCR7 migration and IDO1/IRF4 tolerance)

261: MHz-XPCS reveals anomalous ferritin diffusion and nanoscale cage trapping

260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics

259: Ku filaments that hold DNA together

258: Correcting GC bias in metagenomes

257: PSMC5: proteasomes, immunity and neurodevelopment

256: Compartmental control of VSG silencing

255: Lipids, Ions and the AE1 Elevator

254: Rescuing the replisome at a nick

253: Nap1 and histone acetylation tune chromatin condensates

252: Keratinocytes to cSCC: genetic steps

251: MuSCs, laminin-α2 and LAMA2 MD

250: CIP2A–TOPBP1: Mitotic repair via MiDAS and MMEJ

249: PCM1 links centrosome asymmetry to endosome dynamics

248: Disruption of PIKfyve triggers lysosomal repair and mitochondrial adaptation

247: Genome graphs reveal structural variation in M. tuberculosis

246: SV2A structural pharmacology and allosteric occlusion

245: Benchmarking DNA foundation models

244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis

243: Genome-wide UVB GxE study finds 162 vitamin D variants

242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats

241: Wagyu T2T reveals a cattle X neocentromere

240: CYFIP1 controls cortical axon development by modulating calcium

239: Genomic Adaptations of the Svalbard Reindeer

238: Germline polymorphisms shape antibody light chain repertoires

237: Tracing enteric pathogens in Africa with metagenomics and WGS

236: XPD translocation and genetic disease etiology

235: Maternal H3K9 methyltransferases control aRMAE in C. elegans

234: MTHFR genotype and methionine metabolism predict COVID-19 severity

233: NuA3 structure reveals the mechanism of H3K14 acetylation

232: Lamin A/C steers fork restart via H3K9me3 and PARylation

231: Transcription start sites as a germline mutational hotspot

230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome

229: Inhibiting PCBP2 condensates in Alzheimer’s

228: Two non-competing H3N2 stem antibodies reveal evolving antigenicity

227: 1q gain enables rescue of aneuploid hESCs during RPE differentiation

226: FGF4 protects podocytes in diabetic kidney disease

225: VRK-1, BAF-1 and the release of meiotic chromatin

224: Biohybrid implants: wireless sensing with engineered bacteria

223: Torsion Controls Replication: Stall and Restart

222: snaR-A disrupts mRNA splicing in cancer

221: Allele-resolved nanopore tour of the human placental methylome

220: AML cell states reveal NPM1 immune-evasion subtypes

219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain

218: SIM1 and the multi-ancestry genomics of erectile dysfunction

217: Multiscale triads of meiotic crossover patterning

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair

215: Protein Set Transformer for high-diversity viromics

214: PI(4,5)P2 Asymmetry Accelerates FGF2 Secretion

213: BRAIN-MAGNET: Functional genomics atlas for non-coding variants

212: Zonal control of mutant β-catenin tumorigenesis

211: Retention Elements in Cancer Cells

210: Tumour-Reactive CD8 T Cell Clusters in Human Melanoma

209: PERT: Prime Editing tRNAs for Nonsense Mutations

208: ZAK, Collided Ribosomes, and the Stress Switch

207: Semantic Design of de novo Genes with Evo

206: Wild Birds and the North American H5N1 Epizootic

205: Ancient RNA Expression Profiles from the Woolly Mammoth

204: StealTHY CRISPR: Revealing Hidden Metastasis Regulators

203: Divergent Evolutionary Dynamics of Benign and Malignant Tumors

202: Stereo-seq V2: Spatial Total RNA Mapping in FFPE Tissues

201: Sex, Smoking, and Somatic Selection in the Bladder

200: Sperm Sequencing Reveals Extensive Positive Selection in the Male Germline

199: PLD4 Deficiency and Lupus: When Nuclease Failure Ignites Autoimmunity

198: Mechanical Confinement and the Shape-Shifting Life of Melanoma Cells

197: Somatic Mutation and Selection at Population Scale

196: Impact of Chromatin Accessibility QTLs Across Immune Contexts

195: Tiny Shields: Lymphoid Microglia in Alzheimer’s Disease

194: Bayesian History of Science: Watson and Crick and the Structure of DNA

193: SARM1, DNA, and the Death Signal

192: At Base-Pair Resolution: Chromatin’s Cis-Regulatory Conversations

191: CATphishing: Synthetic Learning as an Alternative to Federated Learning in MRI

190: dGCNA and single-cell maps reveal cell-type mechanisms in T2D

189: DNA methylation patterns facilitate tracing the origin of neuroendocrine neoplasms

188: Proteomics + Machine Learning for Lyme Neuroborreliosis Diagnosis

187: Gapped scheduling: CRLX101 + olaparib Phase I trial

186: TNFα–TGFβ Axis Disrupts Nasal Epithelium in Post‑COVID Syndrome

185: Altered Milk Tryptophan in Women Living with HIV

184: High-Accuracy Multiethnic XGBoost for Skin Cancer Identification

183: The Genetic Lottery Goes to School: Better Schools Compensate for Genetic Differences

182: Genotypic, Functional, and Phenotypic Characterization in CTNNB1 Neurodevelopmental Syndrome

181: Creatine Transporter SLC6A8: Conservation and Variant Impact

180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction

179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition

176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma

175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk

174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility

173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset

172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense

171: Virulence Hierarchies in the Tuberculosis Complex—What Makes Some Lineages Deadlier?

170: Maternal Age, Meiotic Recombination Failure, and Triploidy in Humans

169: Deep mutational scanning of the insulin receptor guides precision therapy for insulin resistance

168: Low circulating miR-190a-5p predicts progression of chronic kidney disease

167: DeepScence: Detecting Senescent Cells at Single-Cell and Spatial Resolution

166: Molecular Squeezing: How Coronin, Cofilin, and AIP1 Rapidly Disassemble Actin Filaments

165: Protist Genomics: Key to Understanding Eukaryotic Evolution

164: m6A in the coding sequence: linking deposition, translation, and decay

163: Animal origins: looping back in time

162: Spatial miRNomics: technologies, challenges, and opportunities

161: Decoding genomic landscapes of introgression

160: Long reads meet single-cell omics

159: Short Reads, Big Biodiversity: The Untapped Potential of Genome Skimming

158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis

157: Synthetic Gametes and the Non-Identity Problem

156: ZFKLO[N, ZUF and TKZLO[N Systems

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

154: Multiple-testing corrections in IBD-based selection scans

153: Skeletal muscle eQTLs map cardiometabolic genes

152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation

151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium

150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

149: Tracing ancient Y chromosome variation

148: CHEK2 splice-site variants: minigene dissection

147: Full-length ABO Haplotype Sequencing and Variant Resolution

146: Automated, Decentralized cfDNA Profiling for Targetable and Resistance Alterations

145: hs-MSI Validation: Detecting CMMRD and Pinpointing PMS2

144: Revising the age of the human chromosome 2 fusion

143: Modelling genetic 'outliers' in ancient Eurasia (S1E143)

142: PALB2 ACMG/AMP Specifications

141: RetiGene: a gene atlas for inherited retinal diseases

140: SOD1 Variant Landscapes: Activity and Abundance Maps

139: MosCoverY: a coverage-based method to detect mosaic loss of Y

138: Social exposome and dementia in Latin America

137: Rethinking RNA-binding proteins: riboregulation beyond the classics

136: Gene context drift and RECODR: predicting targets to prevent cancer relapse

135: Micronutrients and Modern Human Evolution

134: Single-cell view of Barrett's esophagus and EAC

133: Long-read meta-pangenomics links gut genomes to child growth

132: Transcriptome classifiers predict docetaxel sensitivity in advanced prostate cancer

131: Cryptic plasmid pBI143: a small element with outsized presence in the human gut

130: Genetics + CRISPR to Map Obesity and Fat Distribution

129: NPIP — Structural variation, selection, and paralog diversification

128: L1 elements, chromatin and CRISPRi

127: OncoGAN: Generating Synthetic Cancer Genomes with AI

126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons

125: GP2: A Global Roadmap for Parkinson’s Genetics

124: Omnigenic Architecture and Core Genes in Ulcerative Colitis

123: Dominant-negative ATP5F1A variants and uncoupled oxidative phosphorylation

122: Patient stratification reveals the molecular basis of disease co-occurrences

121: G-quadruplexes, BRCA2, and a Helicase Weak Spot

120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome

119: G-quadruplexes, pericentromeres, and B cell genome instability

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection

116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells

115: Neurofibromin, KRAS, and new targets for NF1 tumors

114: One-hour extraction-free LAMP HPV test for point-of-care screening

113: Joint cohort genomics cracks ultra‑rare disease cases

112: Local Genetic Sex Differences in Quantitative Traits

111: HANCOCK: Multimodal Dataset for Precision Oncology in Head and Neck Cancer

110: Rare coding variants implicate STAG1 and ZNF136 in schizophrenia

109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality

108: Epigenome Editing Reverses HBG Silencing

107: Host genetics of endodontic infections: FinnGen GWAS

106: Decoding Cortical Transcriptomes: GABAA Subunit Classes and Pharmacotranscriptomics

105: When Tumors Go Neutral: Genome-Level Selection and Resistance

104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation

103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery

102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort

101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis

100: ALMA: Epigenomic diagnosis & prognosis of AML

99: NXT2: a testis-specific RNA export hub essential for human spermatogenesis

98: Cell Marker Accordion: Interpretable Single-Cell & Spatial Annotation

️ 97: Pancreatic Cancer Genomics: Insights from the COMPASS Trial

️ 96: Early Cerebrospinal Fluid Proteomic Changes in Down Syndrome and Alzheimer’s Disease

95: Mitochondria transfer: biotech strategies and clinical hurdles

94: Intraindividual epigenetic heterogeneity in advanced prostate cancer

93: Bovine H5N1 Shows Neurovirulence in Mice

92: Loss of CFHR5 Function Lowers AMD Risk

91: Plasma N‑Glycome, Liver Disease & Anti‑inflammatory Proteins

90: Sex, APOE-ε4 and TREM2: Who drives tau in medial temporal and neocortex?

89: Genetics of Smell and Sex Differences

88: Stable heritability of childhood Type 1 diabetes

87: Tracing Allograft Injury with cfDNA Methylation

86: Why Pathogenic Variant Impact Varies: Variant Effects, Polygenic Background, and Epistasis

️ 85: Genomic landscape of virus-associated cancers

84: NR6A1 and a newly described oculo‑vertebral‑renal (OVR) syndrome

83: Dup15q in Focus: Single-cell traces of metabolic and synaptic change

82: JAK2 inhibition drives RAS clonal selection in myelofibrosis

81: Pharmacogenetics in a Large Chinese Cohort

80: Genome sequencing predicts outcomes after congenital cardiac surgery

79: Cross-population GWAS and Proteomics Reveal AF Mechanisms and Better Risk Prediction

78: Unloading Lipids: TTYH2 Meets APOE

77: REX: a range extender for long-distance enhancer activity

️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian

75: How Metabolism Shapes Enzyme Structures Over 400 Million Years

74: Benchmarking TCR-epitope predictors with ePytope-TCR

73: Family history and genetics in dementia

72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome

71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum

70: MSA and ternary-code DNA methylation

69: PLK1 overexpression exposes an IGF2BP2 vulnerability

68: Indels Enable One-Step Antiviral Innovation in TRIM5a

67: M-REGLE: Multimodal AI improves genetic prediction of cardiovascular traits

66: Mainstreaming Clinical Genetic Testing: A Conceptual Framework

65: Hidden splice variants in FBN1 — genome sequencing finds Marfan diagnoses

64: Pisces: Multi-modal augmentation for drug combination prediction

63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery

62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction

59: Optimizing Engagement in Cancer Genomics

58: Cell competition shapes depletion of aneuploid cells

57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID

56: When the Immunoproteasome Turns Toxic: PSMB8, PFKFB3 and Ferroptosis in MS

55: Denisovan DNA from the >146,000-year-old Harbin cranium

54: Immune trajectories in COVID-19 among patients with end-stage kidney disease

53: Weighing PRS: costs, benefits, and evidence

52: LIZS6 methods and measurements

51: Finding Hidden mtDNA Diagnoses in Solve-RD

50: Translating the Microbiome to the Clinic

49: Chitin as a reservoir: DNA adsorption and gene transfer in Vibrio cholerae

48: Mainstreaming Clinical Genetic Testing: A Framework for Care

47: Encoding and decoding chemokine-GPCR selectivity

46: How tRNA modifications tune m6A-dependent mRNA decay

45: RNA-dependent mechanics of nucleolar subcompartments

44: Polε Proofreading Revealed

43: Population heterogeneity, insulin sensitivity, proteome & signaling mapping

42: Amino acids catalyse RNA formation under ambient alkaline conditions

41: Valuing Genomic Newborn Screening: Australian Public Preferences

40: Lysosomal SLC7A11 and acidification

39: Scaling whole-genome polygenic scores with VIPRS

38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2

37: Prioritizing missense variants with chemoproteomic-detected amino acids

36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome

35: Tracing CCR5Δ32 through ancient genomes

34: Pegtibatinase in Classical Homocystinuria (COMPOSE)

33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias

32: Idursulfase beta improves mobility and reduces organomegaly in MPS II

31: Non-canonical FBN1 splicing in the 100k Genomes Project

30: Bi‑allelic POPDC2 variants and a recessive cardiac conduction syndrome

29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos

28: scPrediXcan: Deep learning meets single-cell TWAS

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

26: Reannotation reveals functional non-coding mutations in melanoma

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

24: X chromosome and dosage-compensation in complex traits

23: Returning Additional Findings in the 100,000 Genomes Project

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

21: Pooled prime editing maps functional human variants at scale

20: dhps Mutations and SP Protection

19: Promoters & UTRs: Diagnoses from the Near‑Coding Genome

18: UGGT1-CDG: Bi-allelic UGGT1 variants and a new congenital disorder of glycosylation

17: The structure of human sweetness

16: Advancing equity in human genomics

15: The genetic changes that shaped Neandertals, Denisovans, and modern humans

14: Who Benefits from Large-Scale Genomic Programmes?

13: Human de novo mutation rates from a four‑generation pedigree

12: MUTYH's allosteric [4Fe-4S] network

11: Mitochondrial Weakness: Targeting Dnmt3a-Mutant Clonal Hematopoiesis

10: Assessing DNA variants for antisense oligonucleotide therapy

9: MrDAG and the causal architecture of mental health

8: A structural variation reference for medical and population genetics

7: Using high-resolution variant frequencies to empower clinical genome interpretation

6: TRMT1, tRNA m2,2G, and Intellectual Disability

5: Promoter Footprints Predicting Preterm Birth

4: How CXCL12 Shapes Coronary Dominance

3: Data-driven heuristics for splice-altering variants

2: Tube additives and cfDNA integrity: why EDTA still leads

1: Structure-Informed Computational Evidence Sharpens BRCA1 Missense Classification