All Episodes
Base by Base — 379 episodes
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
Untitled Episode
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: Single-Cell Networks Reveal Cell Type–Specific Mechanisms in Type 2 Diabetes
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: Spatially Resolved microRNA Expression in Tissues: Technologies, Challenges, and Opportunities
161: Decoding Genomic Landscapes of Introgression
160: The Long‑Read Leap in Single‑Cell Omics
159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research
158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost?
157: Synthetic gametes and the non-identity problem: the babies of tomorrow
156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution
155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome
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: Corrupted PDF: unable to extract study
136: ZKIVJZ and m{z�oð� n~tq�
135: Micronutrients and Modern Human Evolution
134: Single-cell view of Barrett's esophagus and EAC
133: Culture-Independent Meta‑Pangenomics Reveals Gut Genome Links to Child Growth
132: Decoding a densely encoded methods paper
131: Cryptic plasmid pBI143: a small element with outsized presence in the human gut
130: Genetics + CRISPR to Map Obesity and Fat Distribution
129: UWOW rozo qkytwÞ in a garbled PDF
128: L1 elements, chromatin and CRISPRi
127: Vzm{MFU, roz{yo, kw�o~k�t{z
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: ePytope-TCRBenchmark Suite (corrupted PDF summary)
73: Family history and genetics in dementia
72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome
71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum
70: Encoding‑corrupted article (unable to extract)
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: A Garbled PDF
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: Jo|wo�t{z {q kzo�|w{tn moww� study
57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID
️ 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis
55: Jozt�{�kz, JUF and noz�kw mkwm�w��
54: Corrupted PDF (unreadable encoding)
53: Weighing PRS: costs, benefits, and evidence
52: LIZS6 methods and measurements
51: Finding Hidden mtDNA Diagnoses in Solve-RD
️ 50: The Microbiome for Clinicians — Bridging Research and Practice
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: Decoding ZUF y{ntˆmk�t{z
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