Base by Base

374: DNA-guided Cas12a reprogrammed to target RNA

22 May 2026

Contributed by Lukas

Wu X et al., Nature Biotechnology - The authors engineer synthetic PAM-containing DNA guides (crDNA) that bind Cas12a to form a deoxyribonucleoprotein...

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

21 May 2026

Contributed by Lukas

McGowan J et al., PLOS Genetics - Genome and transcriptome sequencing of an uncultured Oligohymenophorea ciliate (PL0344) reveals a novel nuclear gene...

372: Genes, IQ and Socioeconomic Outcomes in Emerging Adults

20 May 2026

Contributed by Lukas

Kajonius PJ et al., Scientific Reports - This episode examines a twin-study analysis from the German TwinLife panel showing that cognitive ability at ...

371: Glial epigenomic dysregulation and genetic risk in tauopathies

19 May 2026

Contributed by Lukas

Han et al., Nature Communications - This study uses paired single-nucleus chromatin accessibility and gene expression profiling across Alzheimer’s d...

370: ICMT and INPP5E enable BRAFV600E tumor growth

18 May 2026

Contributed by Lukas

Yang X et al., Proceedings of the National Academy of Sciences - Genetic and pharmacologic inhibition of ICMT suppresses proliferation, invasion, and ...

369: NEK2 drives EBV-positive NHL pathogenesis

16 May 2026

Contributed by Lukas

White MC et al., PNAS - This episode reviews a PNAS study showing that the kinase NEK2 is upregulated by EBV and its latency proteins and that NEK2 in...

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

16 May 2026

Contributed by Lukas

Jhaldiyal A et al., PNAS - This episode summarizes a PNAS study showing that PARP1 activation links Aβ1-42 toxicity to DNA damage, amyloid accumulati...

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

15 May 2026

Contributed by Lukas

Singh P et al., PNAS - This paper compares alternative splicing (AS) and gene expression (GE) across 200 transcriptomes from oral and pharyngeal jaws ...

366: BRCA1P1 suppresses antiviral and antitumor immunity

15 May 2026

Contributed by Lukas

Han YJ et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study showing that the BRCA1 pseudogene BRCA1P1 p...

365: MEN1 mutations and menin inhibitor resistance

15 May 2026

Contributed by Lukas

Bourgeois et al., Nature Communications - This study used enhanced CRISPR base editor screens, structural biology, biochemical assays, and in vitro/in...

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

11 May 2026

Contributed by Lukas

Kalinowski A et al., PNAS - This study reports that C4 protein is enriched in human neutrophils and monocytes and that neutrophil C4 protein levels co...

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

09 May 2026

Contributed by Lukas

Zhou Z et al., Nature Communications - This study develops a Lorentzian deconvolution model of cfDNA fragment length distributions across bodily fluid...

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

09 May 2026

Contributed by Lukas

Kearns FL et al., PNAS - Simulations and HDXMS reveal how the D614G substitution alters internal communication in SARS-CoV-2 spike, enabling faster re...

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

08 May 2026

Contributed by Lukas

Beckner RL et al., PNAS - This episode examines a PNAS study using Chiral Inversion Mutagenesis (ChIM) to scan low-complexity domains (LCDs) of Emerin...

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

07 May 2026

Contributed by Lukas

Graff A et al., PNAS - A PNAS study linking global population-genetic data and structural linguistic features finds an inverse correlation: regions wi...

359: Ultrapotent PDCoV Miniprotein MB11

06 May 2026

Contributed by Lukas

Avery NG et al., PNAS - This episode covers a PNAS study reporting the de novo design of miniprotein inhibitors targeting porcine deltacoronavirus (PD...

358: CHCHD4 and a Pediatric OXPHOS Collapse

05 May 2026

Contributed by Lukas

Mantecon M et al., Human Genetics and Genomics Advances - This episode reviews a brief communication reporting a pediatric patient with biallelic CHCH...

356: Recessive Coding Associations Across Six Biobanks

03 May 2026

Contributed by Lukas

Lassen F et al., The American Journal of Human Genetics - Meta-analysis of up to 948,690 exome- or whole-genome-sequenced individuals across six bioba...

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

03 May 2026

Contributed by Lukas

Sanders CG et al et al., PNAS - Surveillance-derived influenza D virus (IDV) isolates were tested across cell lines, primary airway cultures, and prec...

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

30 Apr 2026

Contributed by Lukas

Costantino L et al., PNAS - Costantino et al. dissect how Eco1-mediated acetylation of Smc3 (K112, K113) and cohesin ATPase activity separately regula...

353: Masculinization Reverses Sex Differences in Fertility

30 Apr 2026

Contributed by Lukas

Schubert HA et al., PNAS - This episode reviews a global analysis showing that shifts in population sex composition have reversed historical sex gaps ...

352: Interspecies control of E. coli growth in human gut microbiomes

27 Apr 2026

Contributed by Lukas

Boumasmoud M et al., PNAS - Reciprocal transplant experiments in anaerobic microcosms show that resident human gut microbiome context alters growth of...

351: When Selection Survives Admixture: Hard Sweeps in Ancient Eurasians

26 Apr 2026

Contributed by Lukas

Harris M et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study that uses a domain-adaptive neural networ...

350: OPA1 A8S in Rhesus Macaques Models Autosomal Dominant Optic Atrophy

25 Apr 2026

Contributed by Lukas

Jaggers TN et al et al., PNAS - A spontaneous OPA1 A8S missense mutation in rhesus macaques produces retinal ganglion cell loss, RNFL thinning, optic ...

349: Oxidized rNTPs and Transcription Fidelity: How 8‑oxo‑rGTP Embeds RNA Damage

24 Apr 2026

Contributed by Lukas

Hou P et al., PNAS - This study combines kinetic assays and X‑ray crystallography to show how 8‑oxo‑guanosine triphosphate (8‑oxo‑rGTP) is i...

348: v96: A 96-mutation plasma DNA test to track residual AML through transplant

21 Apr 2026

Contributed by Lukas

Wang Y et al et al., PNAS - This episode covers a PNAS study describing v96, a personalized plasma cell-free DNA assay that tracks up to 96 patient-sp...

347: Diffusive spreading across dynamic mitochondrial network architectures

19 Apr 2026

Contributed by Lukas

Holta KB et al., Proceedings of the National Academy of Sciences (PNAS) - This episode explains a quantitative framework for diffusion on spatially em...

346: Palindromes and RNA Self-Recognition

19 Apr 2026

Contributed by Lukas

Kimchi O et al., PNAS - This computational study shows that self-complementary RNA regions (palindromes) can drive sequence-specific homotypic cluster...

345: Genes of Prosody: Rhythm, Music, and Reading

17 Apr 2026

Contributed by Lukas

Scartozzi AC et al., Human Genetics and Genomics Advances - This episode reviews a GWAS of speech rhythm (prosody) perception using the TOPsy task (n≈...

344: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy

17 Apr 2026

Contributed by Lukas

Kühnisch J et al., Human Genetics and Genomics Advances 7, 100598 (2026) - Case report and tissue analysis linking a homozygous TNNI3 nonsense varian...

343: From Cats to Dogs: The Parvovirus Host Jump

15 Apr 2026

Contributed by Lukas

López-Astacio RA et al., PNAS - Analysis of 60 years of feline panleukopenia virus genomes traces the origins of canine parvovirus, identifies vaccin...

342: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci

14 Apr 2026

Contributed by Lukas

Tovar A et al., Human Genetics and Genomics Advances - This episode examines a study that used a modular MPRA to test ~11,656 genomic fragments from T...

341: The Genetic Lottery and the Value of an Extra Year of School

13 Apr 2026

Contributed by Lukas

Widding-Havneraas T et al., PNAS - This study uses genetic variation related to educational attainment as a quasi-experimental instrument (Mendelian r...

340: Microexon control of behavior: PTPRD splicing (Ep. 340)

12 Apr 2026

Contributed by Lukas

Imai A et al., Proceedings of the National Academy of Sciences (PNAS) - This paper shows that alternative splicing of a 12-nt microexon (meB) in Ptprd...

339: cxt: A language model for population genetics

11 Apr 2026

Contributed by Lukas

Korfmann K et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines cxt, a decoder-only transformer that performs next-c...

338: WDHD1 and Microcephalic Primordial Dwarfism

10 Apr 2026

Contributed by Lukas

Tibbe D et al., The American Journal of Human Genetics - This study identifies bi-allelic hypomorphic WDHD1 variants in 17 subjects with a clinical sp...

338: Measuring disease likelihood in genomic ascertainment

10 Apr 2026

Contributed by Lukas

Sapp JC et al., The American Journal of Human Genetics - A concise overview of Sapp et al.'s study on secondary genomic findings, a Bayesian method to...

337: ND-CNVs and internalizing–cardiometabolic multimorbidity

08 Apr 2026

Contributed by Lukas

Katzourou IK et al., The American Journal of Human Genetics 113, 1–11, June 4, 2026 - Population analysis of ~459,000 UK Biobank participants shows ...

336: Measuring disease likelihood in genomic ascertainment

07 Apr 2026

Contributed by Lukas

Sapp JC et al., The American Journal of Human Genetics - A longitudinal study of recipients of medically actionable secondary genomic findings develop...

335: Altai Neandertal Genome Reveals Deep Population Structure

05 Apr 2026

Contributed by Lukas

Massilania D et al., PNAS - We summarize a PNAS study reporting a ~37× genome from a ~110,000-year-old male Neandertal (Denisova 17) from Denisova Ca...

334: LINE-1 Recombination with Diverse RNAs

05 Apr 2026

Contributed by Lukas

Law C-T et al., Cell Genomics - Law and Burns introduce TiMEstamp, a comparative-genomics pipeline that dates LINE-1 insertions from multiple sequence...

333: Holistic determination of cfDNA ends

04 Apr 2026

Contributed by Lukas

Jiang P et al., Cell Genomics - This episode reviews a Cell Genomics study that uses ssDNA '2-end' and novel '4-end' sequencing to profile native 5′...

333: Holistic determination of cfDNA ends

04 Apr 2026

Contributed by Lukas

Jiang P et al., Cell Genomics - This episode reviews a Cell Genomics study that uses ssDNA '2-end' and novel '4-end' sequencing to profile native 5′...

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

02 Apr 2026

Contributed by Lukas

Liao Y et al., PNAS - Human dermal fibroblasts from young and old donors were embedded in 3D collagen and exposed to mechanical tension and TGF-β. Co...

331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy

31 Mar 2026

Contributed by Lukas

Tan et al et al., The American Journal of Human Genetics - This report identifies bi-allelic NDUFA5 variants in four individuals from three families c...

330: Base by Base Ep.330 — 5ULTRA: Mapping 5′ UTR variants that alter protein translation

30 Mar 2026

Contributed by Lukas

Chaldebas M et al., The American Journal of Human Genetics - Chaldebas et al. present 5ULTRA, a computational pipeline that integrates uORF databases,...

329: Large future genetic diversity losses predicted despite habitat protection

30 Mar 2026

Contributed by Lukas

Mualim KS et al., PNAS - This study develops spatiotemporal population-genetic models calibrated with genomic data to predict how habitat loss and fra...

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

27 Mar 2026

Contributed by Lukas

Zhou A et al., Human Genetics and Genomics Advances - Comparing LD‑pruning, COJO, SuSiE and PCA in haptoglobin (HP) cis‑region data, the study fin...

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

27 Mar 2026

Contributed by Lukas

Lambton J et al., The American Journal of Human Genetics - Bi-allelic ATG12 variants disrupt ATG12‑ATG5 conjugation and LC3 lipidation, impairing au...

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

25 Mar 2026

Contributed by Lukas

Strand LG et al., PNAS - In C. elegans germline, the deubiquitinase DUO-1 is required for assembly and active maintenance of the synaptonemal complex ...

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

24 Mar 2026

Contributed by Lukas

Lawrence et al., Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants. The American Journal of Human ...

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

24 Mar 2026

Contributed by Lukas

Lawrence et al., Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants. The American Journal of Human ...

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

23 Mar 2026

Contributed by Lukas

Farnung J et al., The E3 ubiquitin ligase mechanism specifying targeted microRNA degradation. Nature ( - Cryo-EM and biochemical reconstitution reveal...

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

22 Mar 2026

Contributed by Lukas

Norgren J et al., JAMA Network Open - Population-based SNAC-K study finds higher meat consumption associated with slower cognitive decline and lower d...

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

22 Mar 2026

Contributed by Lukas

Johnson MB et al., The American Journal of Human Genetics - Bi-allelic variants in snRNAs RNU6ATAC and RNU4ATAC cause infancy-onset autoimmune diabete...

321: Canonical nucleobases in asteroid (162173) Ryugu and ammonia-linked purine/pyrimidine ratios

20 Mar 2026

Contributed by Lukas

Koga T et al., et al. A complete set of canonical nucleobases in the carbonaceous asteroid (162173) Ryugu. Nature Astronomy ( - Ryugu asteroid samples...

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

19 Mar 2026

Contributed by Lukas

Amour C et al., Human Genetics and Genomics Advances, Journal Pre-proof - Sex-stratified cQTL mapping in Tanzanian and Dutch adults identifies sex-spe...

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

18 Mar 2026

Contributed by Lukas

Fortuno C et al., Human Genetics and Genomics Advances - TP53 germline variant analysis using functional assays finds reduced-penetrance variants have...

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

18 Mar 2026

Contributed by Lukas

Mendez R et al., Human Genetics and Genomics Advances, Journal Pre-proof - Biallelic RNU6ATAC variants disrupt the U6atac minor spliceosomal snRNA, ca...

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

16 Mar 2026

Contributed by Lukas

Saferali A et al., Human Genetics and Genomics Advances - RNA-seq in human lung (LTRC) and blood (COPDGene) reveals COPD-associated variants colocaliz...

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

14 Mar 2026

Contributed by Lukas

Pimplaskar A et al., The American Journal of Human Genetics - In UCLA ATLAS EHR-linked biobank analyses, random forest-derived enrollment probabilitie...

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

12 Mar 2026

Contributed by Lukas

Mathur Y et al., E., Monir M. M., Islam M. T., Sultana M., Ahmed T., Alam M. & Seed K. D. Capturing dynamic phage–pathogen coevolution by clinic...

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

11 Mar 2026

Contributed by Lukas

Rockowitz S et al., Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. Human Genetics and Genomics Advances - Boston Chil...

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

10 Mar 2026

Contributed by Lukas

Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH) and...

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

09 Mar 2026

Contributed by Lukas

Wong BHH et al., PNAS - Mouse and human studies show the LPC transporter Mfsd2a enables plasma-derived LPC uptake into keratinocytes, preserving linol...

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

08 Mar 2026

Contributed by Lukas

Herpe L et al., PNAS - CRISPR knockout of Drosophila mtG3PDH (GPO1) reduces ATP production by ~60% and O2 consumption by ~33%, lowering mitochondrial ...

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

07 Mar 2026

Contributed by Lukas

Korpela K et al., Gut Microbes - Review finds maternal fecal microbiota transplantation and targeted probiotics can restore Bifidobacterium and Bacter...

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

06 Mar 2026

Contributed by Lukas

Li Z et al., Human Genetics and Genomics Advances. 7 ( - LASI-DAD 30× whole-genome sequencing of 2,680 Indian participants produced a 69.5M-variant L...

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

05 Mar 2026

Contributed by Lukas

Shi J et al., The EMBO Journal - PANDORA-seq profiling of mouse and human sperm heads identifies a conserved rsRNA length shift with age and a tsRNA/r...

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

04 Mar 2026

Contributed by Lukas

Saxton DS et al., Nature - In E. coli, the membrane-bound nuclease SNIPE directly cleaves incoming phage λ DNA during genome injection, blocking infe...

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

03 Mar 2026

Contributed by Lukas

Moye AR et al., The American Journal of Human Genetics - Biallelic loss-of-function variants in SAXO6, a microtubule inner protein of photoreceptor ci...

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

02 Mar 2026

Contributed by Lukas

Siraj L et al., Nature - Using MPRA in five human cell types, the authors assayed 221,412 fine-mapped variants and identified 13,121 trait-associated ...

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

02 Mar 2026

Contributed by Lukas

Baldwin-Brown JG et al., Annual Review of Ecology and Systematics - Bayesian analysis of 76,445 Utah Population Database pedigrees identifies a patril...

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

28 Feb 2026

Contributed by Lukas

Bleidorn C et al., Trends Genet - This review shows how short-read shotgun sequencing and genome skimming recover organellar genomes, estimate genome ...

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

27 Feb 2026

Contributed by Lukas

Ein Hommage-Dossier, das die wissenschaftliche Laufbahn von Prof. Brunhilde Wirth würdigt und Arbeiten zum alternativen Spleißen von SMN1/SMN2 hervo...

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

26 Feb 2026

Contributed by Lukas

The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof et al., anonymous - Tribute to Prof. Brunhilde Wirth highlighting SMN...

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

26 Feb 2026

Contributed by Lukas

Wirth B et al. (The American Journal of Human Genetics, 2026) — Zwei 4-bp-Deletionen in Exon 7 von SMN1 (p.Arg288AlafsTer5) entgehen dem Standard-PC...

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

25 Feb 2026

Contributed by Lukas

Ferolito BR et al., Human Genetics and Genomics Advances. 7 ( - Meta-analysis of MVP, UK Biobank and FinnGen with Mendelian randomization using eQTL/p...

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

24 Feb 2026

Contributed by Lukas

Nyeo SS et al., Nature - Population-scale WGS reanalysis quantifies persistent EBV DNA and shows MHC class II–mediated antigen presentation predicts...

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

24 Feb 2026

Contributed by Lukas

Perdigão C et al., EMBO Molecular Medicine - In mouse neurons, UFM1 loss or UFM1-R81C expression reduces protein translation, triggers ER stress and ...

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

24 Feb 2026

Contributed by Lukas

Lin S et al., The American Journal of Human Genetics 113, 1–11 ( - Bi-allelic FSD1L variants cause retinitis pigmentosa; FSD1L localizes to the phot...

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

24 Feb 2026

Contributed by Lukas

Serpieri V et al., The American Journal of Human Genetics. 113, 1–16 (March 5 - Bi-allelic FSD1L variants disrupt a microtubule-associated protein, ...

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

21 Feb 2026

Contributed by Lukas

Zhou S et al., Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations. Nature Co...

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

19 Feb 2026

Contributed by Lukas

Yu M et al., Cell Genomics. 6 ( - Large-scale exome sequencing shows CFTR risk variants, including deltaF508, reduce susceptibility to inflammatory bo...

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

18 Feb 2026

Contributed by Lukas

Hunter CE et al., The EMBO Journal - Review shows how alternative splicing, via TE exonization and cis-regulatory changes and revealed by long-read RN...

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

17 Feb 2026

Contributed by Lukas

Gracia Carmona O et al., Patterns. 7 ( - IndeLLM uses protein language models (ESM2) to score in-frame indels and a compact Siamese transfer-learning ...

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

17 Feb 2026

Contributed by Lukas

Tong Y et al., EMBO Molecular Medicine - Patient data, population genetics and iPSC-derived βcell models show INS R6C impairs preproinsulin ER transl...

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

15 Feb 2026

Contributed by Lukas

Wirth B et al., The American Journal of Human Genetics - Two SMN1 exon 7 4-bp deletions (p.Arg288AlafsTer5) evade standard PCR newborn screening but p...

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

15 Feb 2026

Contributed by Lukas

Kay CJ et al., Nature 650, 129–140 ( - Relaxed-clock dating of pre-LECA gene duplications in Asgard archaeal and alphaproteobacterial lineages shows...

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

15 Feb 2026

Contributed by Lukas

Kay CJ et al., Nature 650, 129–140 ( - Relaxed-clock dating of pre-LECA gene duplications in Asgard archaeal and alphaproteobacterial lineages shows...

289: MinION detection of chimeric reads in murine Ifna/Ifnb and Actb amplicons

13 Feb 2026

Contributed by Lukas

White R et al., F1000Research - Nanopore MinION sequencing of murine Ifna, Ifnb and Actb amplicons identified post-amplification chimeric reads during...

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

12 Feb 2026

Contributed by Lukas

Sun C et al., PNAS - Using cryo-EM and mass spectrometry in rat cerebellum, α1- and α6-containing GABAA receptor assemblies (β‑α‑β‑α‑γ ...

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

11 Feb 2026

Contributed by Lukas

Granata J et al., PNAS - In mESCs and defined in vitro assays, EPOP and MTF2 stimulate PRC2 methyltransferase activity and promote de novo H3K27me3 de...

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

10 Feb 2026

Contributed by Lukas

Larsen BB et al., PNAS - Deep mutational scanning of the Nipah virus fusion protein F using pseudoviruses maps ~8,500 single-residue effects, showing ...

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

09 Feb 2026

Contributed by Lukas

Berazategui MA et al., PNAS - ESBX (Tb927.3.1660) links RNA Pol I localization at the ESB to activation of the active BES and repression of inactive B...

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

08 Feb 2026

Contributed by Lukas

Solomon CU et al., Nat Commun ( - Integrative analysis in human VSMCs identifies pleiotropic genes including FES that regulate vascular remodeling; po...

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

07 Feb 2026

Contributed by Lukas

Ramírez Renta GM et al., The American Journal of Human Genetics - GALS survey of >4,000 US respondents (GenPop and SPARK) shows confidence in gene...

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

07 Feb 2026

Contributed by Lukas

Ramírez Renta GM et al., The American Journal of Human Genetics - GALS survey of >4,000 US respondents (GenPop and SPARK) shows confidence in gene...

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

06 Feb 2026

Contributed by Lukas

Liang Y et al., The American Journal of Human Genetics. 113 ( - TWAS using genetically predicted expression exhibit polygenicity-driven inflation that...

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

06 Feb 2026

Contributed by Lukas

Di Donato N et al., The American Journal of Human Genetics. 113:324-341 ( - Analysis of 290 individuals with ACTB and ACTG1 variants defines eight dis...