Base by Base
By Gustavo Barra
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Category: Life Sciences
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Episodes: 363
Description
Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time.
Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.
| Episode | Date |
|---|---|
|
361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs
|
May 08, 2026 |
|
360: An inverse correlation between structural linguistic and human genetic diversity
|
May 07, 2026 |
|
359: Ultrapotent PDCoV Miniprotein MB11
|
May 06, 2026 |
|
358: CHCHD4 and a Pediatric OXPHOS Collapse
|
May 05, 2026 |
|
356: Recessive Coding Associations Across Six Biobanks
|
May 03, 2026 |
|
355: Influenza D replicates in the human airway — zoonotic risk
|
May 03, 2026 |
|
354: How Cohesin Acetylation and ATPase Shape Chromatin Loops and Cohesion
|
Apr 30, 2026 |
|
353: Masculinization Reverses Sex Differences in Fertility
|
Apr 30, 2026 |
|
352: Interspecies control of E. coli growth in human gut microbiomes
|
Apr 27, 2026 |
|
351: When Selection Survives Admixture: Hard Sweeps in Ancient Eurasians
|
Apr 26, 2026 |
|
350: OPA1 A8S in Rhesus Macaques Models Autosomal Dominant Optic Atrophy
|
Apr 25, 2026 |
|
349: Oxidized rNTPs and Transcription Fidelity: How 8‑oxo‑rGTP Embeds RNA Damage
|
Apr 24, 2026 |
|
348: v96: A 96-mutation plasma DNA test to track residual AML through transplant
|
Apr 21, 2026 |
|
347: Diffusive spreading across dynamic mitochondrial network architectures
|
Apr 19, 2026 |
|
346: Palindromes and RNA Self-Recognition
|
Apr 19, 2026 |
|
345: Genes of Prosody: Rhythm, Music, and Reading
|
Apr 17, 2026 |
|
344: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy
|
Apr 17, 2026 |
|
343: From Cats to Dogs: The Parvovirus Host Jump
|
Apr 15, 2026 |
|
342: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci
|
Apr 14, 2026 |
|
341: The Genetic Lottery and the Value of an Extra Year of School
|
Apr 13, 2026 |
|
340: Microexon Control of Behavior — PTPRD Splicing
|
Apr 12, 2026 |
|
339: cxt: A language model for population genetics
|
Apr 11, 2026 |
|
338: WDHD1 and Microcephalic Primordial Dwarfism
|
Apr 10, 2026 |
|
337: ND-CNVs and internalizing–cardiometabolic multimorbidity
|
Apr 08, 2026 |
|
336: Measuring disease likelihood in genomic ascertainment
|
Apr 07, 2026 |
|
335: Altai Neandertal Genome Reveals Deep Population Structure
|
Apr 05, 2026 |
|
334: LINE-1 Recombination with Diverse RNAs
|
Apr 05, 2026 |
|
333: Holistic determination of cfDNA ends
|
Apr 04, 2026 |
|
333: Holistic determination of cfDNA ends
|
Apr 04, 2026 |
|
332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction
|
Apr 02, 2026 |
|
331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy
|
Mar 31, 2026 |
|
330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation
|
Mar 30, 2026 |
|
329: Large future genetic diversity losses predicted despite habitat protection
|
Mar 30, 2026 |
|
328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization
|
Mar 27, 2026 |
|
327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development
|
Mar 27, 2026 |
|
326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis
|
Mar 25, 2026 |
|
325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes
|
Mar 24, 2026 |
|
324: ZSWIM8–CUL3 clamp on AGO2–miR-7 reveals mechanism of targeted microRNA degradation
|
Mar 23, 2026 |
|
323: Meat consumption and APOE ε3/ε4–ε4/ε4: slower cognitive decline and lower dementia risk in SNAC‑K
|
Mar 22, 2026 |
|
322: Bi-allelic RNU6ATAC and RNU4ATAC variants cause infancy-onset autoimmune diabetes via minor spliceosome U12 intron retention
|
Mar 22, 2026 |
|
321: All five canonical nucleobases detected in Ryugu samples
|
Mar 20, 2026 |
|
320: Sex-stratified cQTL mapping identifies TOX (IFN-γ) and EGFR (IL-10) regulators in Dutch and Tanzanian cohorts
|
Mar 19, 2026 |
|
319: Predicting reduced-penetrance TP53 variants from functional assays and random forest models
|
Mar 18, 2026 |
|
318: RNU6ATAC variants cause U6atac-driven minor spliceopathy with transcriptome-wide minor intron retention
|
Mar 18, 2026 |
|
317: COPD sQTL colocalization in lung and blood identifies FBXO38 and BTC splicing mechanisms
|
Mar 16, 2026 |
|
316: Inclusion bias in UCLA ATLAS: enrollment models, weighting, and effects on GWAS and PGS
|
Mar 14, 2026 |
|
315: PLE11-encoded Rta restricts ICP1 tail assembly in Vibrio cholerae outbreaks
|
Mar 12, 2026 |
|
314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS
|
Mar 11, 2026 |
|
313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations
|
Mar 10, 2026 |
|
312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation
|
Mar 09, 2026 |
|
311: mtG3PDH (GPO1) loss in Drosophila impairs mitochondrial ATP/O, O2 consumption, and ROS
|
Mar 08, 2026 |
|
310: Infant gut microbiota restoration — maternal FMT, Bifidobacterium and Bacteroides recovery after C‑section
|
Mar 07, 2026 |
|
309: LASI-DAD 2,680-sample WGS panel boosts LD maps, imputation, and PRS in Indian genomes
|
Mar 06, 2026 |
|
308: PANDORA-seq reveals conserved rsRNA length shift and tsRNA/rsRNA aging cliff in mouse and human sperm
|
Mar 05, 2026 |
|
307: SNIPE membrane nuclease cleaves phage λ DNA during ManYZ-mediated genome injection in Escherichia coli
|
Mar 04, 2026 |
|
306: SAXO6 loss-of-function in photoreceptor cilia links a microtubule inner protein to late-onset retinal dystrophy
|
Mar 03, 2026 |
|
305: Human cis-regulatory variants dissected by MPRA at single-nucleotide resolution
|
Mar 02, 2026 |
|
304: Patrilineal Y‑chromosome drive in a Utah pedigree (67% male offspring)
|
Mar 02, 2026 |
|
303: Short-read sequencing and genome skimming for biodiversity monitoring and phylogenomics
|
Feb 28, 2026 |
|
302 auf Deutsch: SMN1/SMN2-Spleißen und Mechanismen im letzten Exon — Hommage an Brunhilde Wirth
|
Feb 27, 2026 |
|
302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth
|
Feb 26, 2026 |
|
301: Biobank Mendelian randomization prioritizes 6,447 genes and nominates ANXA2 for dyslipidemia
|
Feb 25, 2026 |
|
300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA
|
Feb 24, 2026 |
|
299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis
|
Feb 24, 2026 |
|
298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme
|
Feb 24, 2026 |
|
297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder
|
Feb 24, 2026 |
|
296: snaR-A ncRNA antagonizes U2 snRNP SF3B2 to drive intron retention in human cells
|
Feb 21, 2026 |
|
295: CFTR deltaF508 and CF-risk variants protect against IBD in large exome study
|
Feb 19, 2026 |
|
294: Alternative splicing, exonization and lineage-specific isoforms: PTBP1, MAPT and TE-derived exons in mammalian evolution
|
Feb 18, 2026 |
|
293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)
|
Feb 17, 2026 |
|
292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells
|
Feb 17, 2026 |
|
291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis
|
Feb 15, 2026 |
|
290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform
|
Feb 15, 2026 |
|
290 auf Deutsch: SMN1-Exon-7-Deletionen p.Arg288AlafsTer5 entgehen dem PCR-Neugeborenenscreening und erzeugen dennoch eine funktionelle SMN-Isoform
|
Feb 14, 2026 |
|
289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence
|
Feb 13, 2026 |
|
288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies
|
Feb 12, 2026 |
|
287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity
|
Feb 11, 2026 |
|
286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints
|
Feb 10, 2026 |
|
285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei
|
Feb 09, 2026 |
|
284: FES, VSMC behavior and pleiotropic vascular genes identified by integrative functional genomics
|
Feb 08, 2026 |
|
283: Confidence in genetic knowledge drives Familiarity, Knowledge, and Skills in US GALS samples
|
Feb 07, 2026 |
|
Untitled Episode
|
Feb 06, 2026 |
|
281: Variant-level mapping of ACTB and ACTG1 defines eight non-muscle actinopathies and links BWCFF to actin polymerization defects
|
Feb 06, 2026 |
|
280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty acid composition in human subcutaneous adipose tissue
|
Feb 04, 2026 |
|
279: Against the Uncritical Adoption of AI in Universities: LLMs, Chatbots, and Academic Integrity (Guest et al.)
|
Feb 02, 2026 |
|
278: Illumina, Grail and FTC scrutiny of vertical mergers in human genetic technologies
|
Feb 02, 2026 |
|
277: MDGA2 homozygous loss-of-function variants in developmental and epileptic encephalopathy
|
Feb 01, 2026 |
|
276: AlphaGenome: 1-Mb multimodal deep model predicts regulatory variant effects including splicing and TAL1 mechanisms
|
Jan 30, 2026 |
|
275: MIPseq/WES of 11,555 CHD probands implicates 60 dominant genes with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants
|
Jan 30, 2026 |
|
274: RPE MCT2: A metabolic gene-agnostic approach to preserve cones in RP
|
Jan 29, 2026 |
|
273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear element via horizontal transfer
|
Jan 28, 2026 |
|
272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior
|
Jan 27, 2026 |
|
271: Rising EA PGI prediction of educational attainment across 1946–1970 British birth cohorts and socioeconomic interaction
|
Jan 25, 2026 |
|
270: Human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negatively supercoiled DNA measured by optical tweezers
|
Jan 25, 2026 |
|
269: Mlh1–Pms1 endonuclease creates single-strand gaps to excise mispairs in S. cerevisiae MMR
|
Jan 24, 2026 |
|
268: M493I in human β-cardiac myosin: SRX disruption, slow ADP release, and enhanced actin attachment
|
Jan 23, 2026 |
|
267: DNA base-pair opening modes and soliton-like loops revealed by hydrogen exchange
|
Jan 22, 2026 |
|
266: TOP1α and TOP3β Differentially Regulate HPV31 Replication via R-loops and DNA Breaks
|
Jan 21, 2026 |
|
265: ANTSR lncRNA and the conserved multiallelic sex-determining locus across Aculeata
|
Jan 20, 2026 |
|
264: Single-TF rejuvenation: EZH2, E2F3, STAT3, ZFX identified by TRDP/Perturb-seq rejuvenate human fibroblasts and mouse liver
|
Jan 19, 2026 |
|
263: Bifacial γPNA triplets target rCUG repeats and displace MBNL1 in Myotonic Dystrophy type 1
|
Jan 18, 2026 |
|
262: Human Langerhans cells reprogrammed by tick saliva (CXCR4/CCR7 migration and IDO1/IRF4 tolerance)
|
Jan 17, 2026 |
|
261: MHz-XPCS reveals anomalous ferritin diffusion and nanoscale cage trapping
|
Jan 16, 2026 |
|
260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics
|
Jan 15, 2026 |
|
259: Ku filaments that hold DNA together
|
Jan 14, 2026 |
|
258: Correcting GC bias in metagenomes
|
Jan 13, 2026 |
|
257: PSMC5: proteasomes, immunity and neurodevelopment
|
Jan 12, 2026 |
|
256: Compartmental control of VSG silencing
|
Jan 11, 2026 |
|
255: Lipids, Ions and the AE1 Elevator
|
Jan 10, 2026 |
|
254: Rescuing the replisome at a nick
|
Jan 09, 2026 |
|
253: Nap1 and histone acetylation tune chromatin condensates
|
Jan 08, 2026 |
|
252: Keratinocytes to cSCC: genetic steps
|
Jan 07, 2026 |
|
251: MuSCs, laminin-α2 and LAMA2 MD
|
Jan 06, 2026 |
|
250: CIP2A–TOPBP1: Mitotic repair via MiDAS and MMEJ
|
Jan 05, 2026 |
|
249: PCM1 links centrosome asymmetry to endosome dynamics
|
Jan 04, 2026 |
|
248: Disruption of PIKfyve triggers lysosomal repair and mitochondrial adaptation
|
Jan 03, 2026 |
|
247: Genome graphs reveal structural variation in M. tuberculosis
|
Jan 02, 2026 |
|
246: SV2A structural pharmacology and allosteric occlusion
|
Jan 01, 2026 |
|
245: Benchmarking DNA foundation models
|
Dec 31, 2025 |
|
244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis
|
Dec 30, 2025 |
|
243: Genome-wide UVB GxE study finds 162 vitamin D variants
|
Dec 29, 2025 |
|
242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats
|
Dec 28, 2025 |
|
241: Wagyu T2T reveals a cattle X neocentromere
|
Dec 27, 2025 |
|
240: CYFIP1 controls cortical axon development by modulating calcium
|
Dec 26, 2025 |
|
239: Genomic Adaptations of the Svalbard Reindeer
|
Dec 25, 2025 |
|
238: Germline polymorphisms shape antibody light chain repertoires
|
Dec 24, 2025 |
|
237: Tracing enteric pathogens in Africa with metagenomics and WGS
|
Dec 23, 2025 |
|
236: XPD translocation and genetic disease etiology
|
Dec 22, 2025 |
|
235: Maternal H3K9 methyltransferases control aRMAE in C. elegans
|
Dec 21, 2025 |
|
234: MTHFR genotype and methionine metabolism predict COVID-19 severity
|
Dec 20, 2025 |
|
233: NuA3 structure reveals the mechanism of H3K14 acetylation
|
Dec 19, 2025 |
|
232: Lamin A/C steers fork restart via H3K9me3 and PARylation
|
Dec 18, 2025 |
|
231: Transcription start sites as a germline mutational hotspot
|
Dec 17, 2025 |
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230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome
|
Dec 17, 2025 |
|
229: Inhibiting PCBP2 condensates in Alzheimer’s
|
Dec 15, 2025 |
|
228: Two non-competing H3N2 stem antibodies reveal evolving antigenicity
|
Dec 14, 2025 |
|
227: 1q gain enables rescue of aneuploid hESCs during RPE differentiation
|
Dec 13, 2025 |
|
226: FGF4 protects podocytes in diabetic kidney disease
|
Dec 12, 2025 |
|
225: VRK-1, BAF-1 and the release of meiotic chromatin
|
Dec 10, 2025 |
|
224: Biohybrid implants: wireless sensing with engineered bacteria
|
Dec 10, 2025 |
|
223: Torsion Controls Replication: Stall and Restart
|
Dec 09, 2025 |
|
222: snaR-A disrupts mRNA splicing in cancer
|
Dec 08, 2025 |
|
221: Allele-resolved nanopore tour of the human placental methylome
|
Dec 07, 2025 |
|
220: AML cell states reveal NPM1 immune-evasion subtypes
|
Dec 06, 2025 |
|
219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain
|
Dec 06, 2025 |
|
218: SIM1 and the multi-ancestry genomics of erectile dysfunction
|
Dec 04, 2025 |
|
217: Multiscale triads of meiotic crossover patterning
|
Dec 03, 2025 |
|
216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair
|
Dec 02, 2025 |
|
215: Protein Set Transformer for high-diversity viromics
|
Dec 01, 2025 |
|
214: PI(4,5)P2 Asymmetry Accelerates FGF2 Secretion
|
Nov 30, 2025 |
|
213: BRAIN-MAGNET: Functional genomics atlas for non-coding variants
|
Nov 29, 2025 |
|
212: Zonal control of mutant β-catenin tumorigenesis
|
Nov 28, 2025 |
|
211: Retention Elements in Cancer Cells
|
Nov 27, 2025 |
|
210: Tumour-Reactive CD8 T Cell Clusters in Human Melanoma
|
Nov 26, 2025 |
|
209: PERT: Prime Editing tRNAs for Nonsense Mutations
|
Nov 25, 2025 |
|
208: ZAK, Collided Ribosomes, and the Stress Switch
|
Nov 24, 2025 |
|
207: Semantic Design of de novo Genes with Evo
|
Nov 24, 2025 |
|
206: Wild Birds and the North American H5N1 Epizootic
|
Nov 22, 2025 |
|
205: Ancient RNA Expression Profiles from the Woolly Mammoth
|
Nov 21, 2025 |
|
204: StealTHY CRISPR: Revealing Hidden Metastasis Regulators
|
Nov 20, 2025 |
|
203: Divergent Evolutionary Dynamics of Benign and Malignant Tumors
|
Nov 19, 2025 |
|
202: Stereo-seq V2: Spatial Total RNA Mapping in FFPE Tissues
|
Nov 19, 2025 |
|
201: Sex, Smoking, and Somatic Selection in the Bladder
|
Nov 17, 2025 |
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200: Sperm Sequencing Reveals Extensive Positive Selection in the Male Germline
|
Nov 16, 2025 |
|
199: PLD4 Deficiency and Lupus: When Nuclease Failure Ignites Autoimmunity
|
Nov 15, 2025 |
|
198: Mechanical Confinement and the Shape-Shifting Life of Melanoma Cells
|
Nov 14, 2025 |
|
197: Somatic Mutation and Selection at Population Scale
|
Nov 13, 2025 |
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196: Impact of Chromatin Accessibility QTLs Across Immune Contexts
|
Nov 12, 2025 |
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195: Tiny Shields: Lymphoid Microglia in Alzheimer’s Disease
|
Nov 11, 2025 |
|
194: Bayesian History of Science: Watson and Crick and the Structure of DNA
|
Nov 10, 2025 |
|
193: SARM1, DNA, and the Death Signal
|
Nov 09, 2025 |
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192: At Base-Pair Resolution: Chromatin’s Cis-Regulatory Conversations
|
Nov 08, 2025 |
|
191: CATphishing: Synthetic Learning as an Alternative to Federated Learning in MRI
|
Nov 07, 2025 |
|
190: Single-Cell Networks Reveal Cell Type–Specific Mechanisms in Type 2 Diabetes
|
Nov 06, 2025 |
|
189: DNA methylation patterns facilitate tracing the origin of neuroendocrine neoplasms
|
Nov 05, 2025 |
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188: Proteomics + Machine Learning for Lyme Neuroborreliosis Diagnosis
|
Nov 04, 2025 |
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187: Gapped scheduling: CRLX101 + olaparib Phase I trial
|
Nov 03, 2025 |
|
186: TNFα–TGFβ Axis Disrupts Nasal Epithelium in Post‑COVID Syndrome
|
Nov 02, 2025 |
|
185: Altered Milk Tryptophan in Women Living with HIV
|
Nov 01, 2025 |
|
184: High-Accuracy Multiethnic XGBoost for Skin Cancer Identification
|
Oct 31, 2025 |
|
183: The Genetic Lottery Goes to School: Better Schools Compensate for Genetic Differences
|
Oct 30, 2025 |
|
182: Genotypic, Functional, and Phenotypic Characterization in CTNNB1 Neurodevelopmental Syndrome
|
Oct 29, 2025 |
|
181: Creatine Transporter SLC6A8: Conservation and Variant Impact
|
Oct 28, 2025 |
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180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction
|
Oct 27, 2025 |
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179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases
|
Oct 26, 2025 |
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178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications
|
Oct 25, 2025 |
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177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition
|
Oct 24, 2025 |
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176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma
|
Oct 23, 2025 |
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175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk
|
Oct 22, 2025 |
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174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility
|
Oct 21, 2025 |
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173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset
|
Oct 20, 2025 |
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172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense
|
Oct 19, 2025 |
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171: Virulence Hierarchies in the Tuberculosis Complex—What Makes Some Lineages Deadlier?
|
Oct 18, 2025 |
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170: Maternal Age, Meiotic Recombination Failure, and Triploidy in Humans
|
Oct 17, 2025 |
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169: Deep mutational scanning of the insulin receptor guides precision therapy for insulin resistance
|
Oct 16, 2025 |
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168: Low circulating miR-190a-5p predicts progression of chronic kidney disease
|
Oct 15, 2025 |
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167: DeepScence: Detecting Senescent Cells at Single-Cell and Spatial Resolution
|
Oct 14, 2025 |
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166: Molecular Squeezing: How Coronin, Cofilin, and AIP1 Rapidly Disassemble Actin Filaments
|
Oct 13, 2025 |
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165: Protist Genomics: Key to Understanding Eukaryotic Evolution
|
Oct 12, 2025 |
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164: m6A in the coding sequence: linking deposition, translation, and decay
|
Oct 11, 2025 |
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163: Animal origins: looping back in time
|
Oct 10, 2025 |
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162: Spatially Resolved microRNA Expression in Tissues: Technologies, Challenges, and Opportunities
|
Oct 09, 2025 |
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161: Decoding Genomic Landscapes of Introgression
|
Oct 08, 2025 |
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160: The Long‑Read Leap in Single‑Cell Omics
|
Oct 07, 2025 |
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159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research
|
Oct 06, 2025 |
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158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost?
|
Oct 05, 2025 |
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157: Synthetic gametes and the non-identity problem: the babies of tomorrow
|
Oct 04, 2025 |
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156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution
|
Oct 03, 2025 |
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155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome
|
Oct 02, 2025 |
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154: Multiple-testing corrections in selection scans using identity-by-descent segments
|
Oct 01, 2025 |
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153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits
|
Sep 30, 2025 |
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152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia
|
Sep 29, 2025 |
|
151: EQA of ctDNA Mutation Testing Across the COIN Consortium
|
Sep 28, 2025 |
|
150: Patrilineal segmentary systems and the post‑Neolithic Y‑chromosome bottleneck
|
Sep 27, 2025 |
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149: Cultural Hitchhiking and the Post‑Neolithic Y‑Chromosome Bottleneck
|
Sep 26, 2025 |
|
148: Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
|
Sep 25, 2025 |
|
147: Comprehensive Annotation of Complete ABO Alleles and Resolution of ABO Variants
|
Sep 24, 2025 |
|
146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors
|
Sep 23, 2025 |
|
145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD
|
Sep 22, 2025 |
|
144: Revised time estimation of the ancestral human chromosome 2 fusion
|
Sep 21, 2025 |
|
143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility
|
Sep 20, 2025 |
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142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation
|
Sep 19, 2025 |
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141: RetiGene, a comprehensive gene atlas for inherited retinal diseases
|
Sep 18, 2025 |
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140: Landscapes of missense variant impact for human superoxide dismutase 1
|
Sep 17, 2025 |
|
139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data
|
Sep 16, 2025 |
|
138: Social exposome and brain health outcomes of dementia across Latin America
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Sep 15, 2025 |
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137: Rethinking RNA-binding proteins: Riboregulation challenges prevailing views
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Sep 14, 2025 |
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136: Gene Context Drift Identifies Drug Targets to Mitigate Cancer Treatment Resistance
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Sep 13, 2025 |
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135: Global impact of micronutrients in modern human evolution
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Sep 12, 2025 |
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134: Single-Cell Maps Link Intestinal Metaplasia to Esophageal Adenocarcinoma Risk
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Sep 11, 2025 |
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133: Culture-Independent Meta‑Pangenomics Reveals Gut Genome Links to Child Growth
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Sep 10, 2025 |
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132: Tumor transcriptome classifiers predict treatment sensitivity in advanced prostate cancer
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Sep 09, 2025 |
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131: pBI143: The Human Gut’s Hidden Heavyweight
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Sep 08, 2025 |
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130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution
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Sep 07, 2025 |
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129: Structural variation and diversification of the NPIP gene family from the human pangenome
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Sep 06, 2025 |
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128: LINE‑1 Promoters Orchestrate Early Human Brain Development
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Sep 05, 2025 |
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127: In silico generation of synthetic cancer genomes using generative AI
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Sep 04, 2025 |
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126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models
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Sep 03, 2025 |
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125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
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Sep 02, 2025 |
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124: Exploring the Omnigenic Architecture of Selected Complex Traits
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Sep 01, 2025 |
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123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease
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Aug 31, 2025 |
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122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences
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Aug 30, 2025 |
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121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma
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Aug 29, 2025 |
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120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment
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Aug 28, 2025 |
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119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells
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Aug 27, 2025 |
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118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B
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Aug 26, 2025 |
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117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection
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Aug 25, 2025 |
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116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells
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Aug 24, 2025 |
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115: A Transcriptomic, Proteomic, and Functional Genetic Atlas Dissects Neurofibromin Function in the Peripheral Nervous System
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Aug 24, 2025 |
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114: One-hour extraction-free loop-mediated isothermal amplification HPV DNA assay for point-of-care testing in Maputo, Mozambique
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Aug 22, 2025 |
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113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations
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Aug 21, 2025 |
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112: Local Genetic Sex Differences in Quantitative Traits
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Aug 20, 2025 |
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111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer
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Aug 19, 2025 |
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110: Whole-exome sequencing identifies new schizophrenia risk genes
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Aug 18, 2025 |
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109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality
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Aug 17, 2025 |
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108: Epigenome Editing Reverses HBG Silencing
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Aug 16, 2025 |
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107: Host genetics of endodontic infections: FinnGen GWAS
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Aug 15, 2025 |
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106: Decoding Cortical Transcriptomes: GABAA Subunit Classes and Pharmacotranscriptomics
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Aug 14, 2025 |
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105: When Tumors Go Neutral: Genome-Level Selection and Resistance
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Aug 13, 2025 |
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104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation
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Aug 12, 2025 |
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103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery
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Aug 11, 2025 |
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102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort
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Aug 10, 2025 |
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101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis
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Aug 09, 2025 |
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100: ALMA: Epigenomic diagnosis & prognosis of AML
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Aug 08, 2025 |
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99: NXT2: a testis-specific RNA export hub essential for human spermatogenesis
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Aug 07, 2025 |
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98: Cell Marker Accordion: Interpretable Single-Cell & Spatial Annotation
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Aug 06, 2025 |
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️ 97: Pancreatic Cancer Genomics: Insights from the COMPASS Trial
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Aug 05, 2025 |
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️ 96: Early Cerebrospinal Fluid Proteomic Changes in Down Syndrome and Alzheimer’s Disease
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Aug 04, 2025 |
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95: Mitochondria transfer: biotech strategies and clinical hurdles
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Aug 03, 2025 |
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94: Intraindividual epigenetic heterogeneity in advanced prostate cancer
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Aug 02, 2025 |
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93: Bovine H5N1 Shows Neurovirulence in Mice
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Aug 01, 2025 |
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92: Loss of CFHR5 Function Lowers AMD Risk
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Jul 31, 2025 |
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91: Plasma N‑Glycome, Liver Disease & Anti‑inflammatory Proteins
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Jul 30, 2025 |
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90: Sex, APOE-ε4 and TREM2: Who drives tau in medial temporal and neocortex?
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Jul 29, 2025 |
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89: Genetics of Smell and Sex Differences
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Jul 28, 2025 |
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88: Stable heritability of childhood Type 1 diabetes
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Jul 27, 2025 |
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87: Tracing Allograft Injury with cfDNA Methylation
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Jul 26, 2025 |
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86: Why Pathogenic Variant Impact Varies: Variant Effects, Polygenic Background, and Epistasis
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Jul 25, 2025 |
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️ 85: Genomic landscape of virus-associated cancers
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Jul 24, 2025 |
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84: NR6A1 and a newly described oculo‑vertebral‑renal (OVR) syndrome
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Jul 23, 2025 |
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83: Dup15q in Focus: Single-cell traces of metabolic and synaptic change
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Jul 22, 2025 |
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82: JAK2 inhibition drives RAS clonal selection in myelofibrosis
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Jul 21, 2025 |
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81: Pharmacogenetics in a Large Chinese Cohort
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Jul 20, 2025 |
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80: Genome sequencing predicts outcomes after congenital cardiac surgery
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Jul 19, 2025 |
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79: Cross-population GWAS and Proteomics Reveal AF Mechanisms and Better Risk Prediction
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Jul 18, 2025 |
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78: Unloading Lipids: TTYH2 Meets APOE
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Jul 17, 2025 |
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77: REX: a range extender for long-distance enhancer activity
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Jul 16, 2025 |
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️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian
|
Jul 15, 2025 |
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75: How Metabolism Shapes Enzyme Structures Over 400 Million Years
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Jul 14, 2025 |
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74: ePytope-TCRBenchmark Suite (corrupted PDF summary)
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Jul 13, 2025 |
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73: Family history and genetics in dementia
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Jul 12, 2025 |
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72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome
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Jul 11, 2025 |
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71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum
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Jul 10, 2025 |
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70: Encoding‑corrupted article (unable to extract)
|
Jul 09, 2025 |
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69: PLK1 overexpression exposes an IGF2BP2 vulnerability
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Jul 08, 2025 |
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68: Indels Enable One-Step Antiviral Innovation in TRIM5a
|
Jul 07, 2025 |
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67: M-REGLE: Multimodal AI improves genetic prediction of cardiovascular traits
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Jul 06, 2025 |
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66: Mainstreaming Clinical Genetic Testing: A Conceptual Framework
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Jul 05, 2025 |
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65: Hidden splice variants in FBN1 — genome sequencing finds Marfan diagnoses
|
Jul 04, 2025 |
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64: A Garbled PDF
|
Jul 03, 2025 |
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63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery
|
Jul 02, 2025 |
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62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance
|
Jul 01, 2025 |
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️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay
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Jun 30, 2025 |
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60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction
|
Jun 30, 2025 |
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59: Optimizing Engagement in Cancer Genomics
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Jun 29, 2025 |
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58: Jo|wo�t{z {q kzo�|w{tn moww� study
|
Jun 28, 2025 |
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57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID
|
Jun 27, 2025 |
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️ 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis
|
Jun 26, 2025 |
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55: Jozt�{�kz, JUF and noz�kw mkwm�w��
|
Jun 25, 2025 |
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54: Corrupted PDF (unreadable encoding)
|
Jun 24, 2025 |
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53: Weighing PRS: costs, benefits, and evidence
|
Jun 23, 2025 |
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52: LIZS6 methods and measurements
|
Jun 22, 2025 |
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51: Finding Hidden mtDNA Diagnoses in Solve-RD
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Jun 21, 2025 |
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️ 50: The Microbiome for Clinicians — Bridging Research and Practice
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Jun 19, 2025 |
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49: Chitin as a reservoir: DNA adsorption and gene transfer in Vibrio cholerae
|
Jun 18, 2025 |
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48: Mainstreaming Clinical Genetic Testing: A Framework for Care
|
Jun 16, 2025 |
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47: Encoding and decoding chemokine-GPCR selectivity
|
Jun 16, 2025 |
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46: Decoding ZUF y{ntˆmk�t{z
|
Jun 14, 2025 |
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45: RNA-dependent mechanics of nucleolar subcompartments
|
Jun 12, 2025 |
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44: Polε Proofreading Revealed
|
Jun 12, 2025 |
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43: Population heterogeneity, insulin sensitivity, proteome & signaling mapping
|
Jun 11, 2025 |
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42: Amino acids catalyse RNA formation under ambient alkaline conditions
|
Jun 11, 2025 |
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41: Valuing Genomic Newborn Screening: Australian Public Preferences
|
Jun 10, 2025 |
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40: Lysosomal SLC7A11 and acidification
|
Jun 09, 2025 |
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39: Scaling whole-genome polygenic scores with VIPRS
|
Jun 07, 2025 |
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38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2
|
Jun 07, 2025 |
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37: Prioritizing missense variants with chemoproteomic-detected amino acids
|
Jun 06, 2025 |
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36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome
|
Jun 06, 2025 |
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35: Tracing CCR5Δ32 through ancient genomes
|
Jun 06, 2025 |
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34: Pegtibatinase in Classical Homocystinuria (COMPOSE)
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Jun 06, 2025 |
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33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias
|
Jun 05, 2025 |
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32: Idursulfase beta improves mobility and reduces organomegaly in MPS II
|
Jun 05, 2025 |
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31: Non-canonical FBN1 splicing in the 100k Genomes Project
|
Jun 05, 2025 |
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30: Bi‑allelic POPDC2 variants and a recessive cardiac conduction syndrome
|
May 26, 2025 |
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29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos
|
May 23, 2025 |
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28: scPrediXcan: Deep learning meets single-cell TWAS
|
May 22, 2025 |
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27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs
|
May 21, 2025 |
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26: Reannotation reveals functional non-coding mutations in melanoma
|
May 20, 2025 |
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25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis
|
May 19, 2025 |
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24: X chromosome and dosage-compensation in complex traits
|
May 18, 2025 |
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23: Returning Additional Findings in the 100,000 Genomes Project
|
May 17, 2025 |
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22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation
|
May 16, 2025 |
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21: Pooled prime editing maps functional human variants at scale
|
May 16, 2025 |
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20: dhps Mutations and SP Protection
|
May 16, 2025 |
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19: Promoters & UTRs: Diagnoses from the Near‑Coding Genome
|
May 14, 2025 |
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18: UGGT1-CDG: Bi-allelic UGGT1 variants and a new congenital disorder of glycosylation
|
May 13, 2025 |
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17: The structure of human sweetness
|
May 13, 2025 |
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16: Advancing equity in human genomics
|
Apr 25, 2025 |
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15: The genetic changes that shaped Neandertals, Denisovans, and modern humans
|
Apr 25, 2025 |
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14: Who Benefits from Large-Scale Genomic Programmes?
|
Apr 25, 2025 |
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13: Human de novo mutation rates from a four‑generation pedigree
|
Apr 25, 2025 |
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12: MUTYH's allosteric [4Fe-4S] network
|
Apr 19, 2025 |
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11: Mitochondrial Weakness: Targeting Dnmt3a-Mutant Clonal Hematopoiesis
|
Apr 19, 2025 |
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10: Assessing DNA variants for antisense oligonucleotide therapy
|
Apr 18, 2025 |
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9: MrDAG and the causal architecture of mental health
|
Apr 18, 2025 |
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8: A structural variation reference for medical and population genetics
|
Apr 17, 2025 |
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7: Using high-resolution variant frequencies to empower clinical genome interpretation
|
Apr 17, 2025 |
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6: TRMT1, tRNA m2,2G, and Intellectual Disability
|
Apr 17, 2025 |
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5: Promoter Footprints Predicting Preterm Birth
|
Apr 16, 2025 |
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4: How CXCL12 Shapes Coronary Dominance
|
Apr 16, 2025 |
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3: Data-driven heuristics for splice-altering variants
|
Apr 16, 2025 |
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2: Tube additives and cfDNA integrity: why EDTA still leads
|
Apr 16, 2025 |
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1: Structure-Informed Computational Evidence Sharpens BRCA1 Missense Classification
|
Apr 15, 2025 |