#ASHG

@shihcheng.bsky.social

4 hours ago

https://doi.org/10.1001/jamapsychiatry.2026.0083 No description available

Results from the 2025 Euro Psychiatry Exam: 92% pass rate, highlighting robust training outcomes across Europe. PMID:41811325, JAMA Psychiatry 2026, @JAMAPsych https://doi.org/10.1001/jamapsychiatry.2026.0083 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 1 0 0

Shicheng Guo

@shihcheng.bsky.social

5 hours ago

Merlin: a computed tomography vision–language foundation model and dataset | Nature The large volume of abdominal computed tomography (CT) scans1,2 coupled with the shortage of radiologists3–6 have intensified the need for automated medical image analysis tools. Previous state-of-the-art approaches for automated analysis leverage vision–language models (VLMs) that jointly model images and radiology reports7–12. However, current medical VLMs are generally limited to 2D images and short reports. Here to overcome these shortcomings for abdominal CT interpretation, we introduce Merlin, a 3D VLM that learns from volumetric CT scans, electronic health record data and radiology reports. This approach is enabled by a multistage pretraining framework that does not require additional manual annotations. We trained Merlin using a high-quality clinical dataset of paired CT scans (>6 million images from 15,331 CT scans), diagnosis codes (>1.8 million codes) and radiology reports (>6 million tokens). We comprehensively evaluated Merlin on 6 task types and 752 ind

Revolutionizing CT scans: introducing Merlin, a cutting-edge VLM for 3D abdominal imaging. Combines images and detailed reports to aid radiologists. PMID:41781626, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10181-8 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

9 3 1 0

Shicheng Guo

@shihcheng.bsky.social

6 hours ago

https://doi.org/10.1001/jamapsychiatry.2026.0044 No description available

2023 Maui wildfires reveal vital links: heightened depression, anxiety, and suicidal thoughts. Key data from isolated, diverse settings. PMID:41811306, JAMA Psychiatry 2026, @JAMAPsych https://doi.org/10.1001/jamapsychiatry.2026.0044 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

7 2 0 0

Shicheng Guo

@shihcheng.bsky.social

13 hours ago

Single-engineered-residue solvation perturbations regulate global protein architecture and function | Nature Communications Protein-water interactions fundamentally shape the structure, stability, dynamics, and functionality of proteins. However, the heterogeneous nature of the protein-water interface and the disparity in their dynamic interplay make it challenging to understand how local water perturbations influence protein structural dynamics over space and time. In this study, we introduce a photochromic molecule, spiropyran, to modify a specific residue of proteins, thereby achieving a reversible, residue-specific, and amplified perturbation on the hydrophobicity of protein surfaces. With the aid of controlled, amplified hydrophobic perturbations, we reveal that even residue-level changes in hydrophobicity induce significant global alterations in protein hydration patterns. These hydration shifts propagate in an amino acid sequence-dependent manner, initiating dramatic influences on overall protein architecture and catalytic performance. Our findings establish that interfacial water networks not only c

Study introduces spiropyran to modify protein residues, revealing how single-residue water perturbations regulate protein structure and function dynamics! PMID:41807374, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-70155-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

5 2 0 0

Shicheng Guo

@shihcheng.bsky.social

19 hours ago

H pilin cyclisation and pilus biogenesis are promiscuous but electrostatic perturbations impair conjugation efficiency | Nature Communications During conjugation, plasmid DNA is transferred from donor to recipient bacteria via the plasmid-encoded mating pilus, formed as thin helical assemblies of polymerised pilin subunits. In the IncHI1 R27 plasmid-encoded pilus, the TrhA pilin undergoes cyclisation (via a peptide bond between Gly1 and Asp69), essential for conjugation. Gly1 and Asp69 are exposed on the pilus surface and conserved in all TrhA pilins in the Plascad database. Substituting Asp69 with Asn, Ala, Gly, or Arg does not prevent cyclisation or pilus formation, which remains structurally indistinguishable from the wild type. Conjugation efficiency of the Asp69 substitutions across multiple recipient species correlates with side chain size, in the order Asp69Asn > Asp69Ala > Asp69Gly. However, Asp69Arg, as well as Asp69Lys and Gly1Lys substitutions abolish conjugation, likely due to the positively charged pilus surface (opposite to the wild-type negative charge) forming unfavourable electrostatic interactions with

Study: Plasmid DNA is transferred during conjugation via pilus assemblies. Cyclisation of TrhA pilin is essential. Alterations to Asp69 impair efficiency. PMID:41708604, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-69599-3 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 0 0 0

Shicheng Guo

@shihcheng.bsky.social

20 hours ago

Rete ridges form via evolutionarily distinct mechanisms in mammalian skin | Nature The loss of fur during human evolution has long mystified scientists and the public1–5. Reduced hair density coincides with acquisition of epidermal rete ridges, the developmental timing and molecular mechanisms of which are poorly understood despite their prominence in humans1,6–9. Examination of human and pig skin development has shown that rete ridges form through a mechanism independent from those of hair follicles10,11 and sweat glands3,4,12–15 by establishing interconnected epidermal invaginations. Here we document the occurrence of rete ridges across Mammalia, including in grizzly bears and dolphins, and show that neonatal pig wounds can regenerate them de novo. Multispecies spatiotemporal transcriptomics identifies significant signalling interactions between epidermal and dermal cells during rete ridge morphogenesis, particularly through bone morphogenetic proteins (BMP). We also demonstrate that mouse fingerpad skin forms rete ridges and functionally requires epidermal BMP sig

Human and pig rete ridges evolve independently of hair and sweat glands. Understanding this sheds light on fur loss and skin evolution. Intrigued? PMID:41639458, Nature 2026, @Nature https://doi.org/10.1038/s41586-025-10055-5 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

0 0 0 0

Shicheng Guo

@shihcheng.bsky.social

21 hours ago

Microbiota-derived IPA protects against colitis by regulating intestinal HMGCS2-mediated ketogenesis to facilitate mucosal healing | Nature Communications The gut microbiota sustains intestinal homeostasis, yet how microbial metabolites direct epithelial repair remains unclear. Here we identify indole-3-propionic acid (IPA), a tryptophan-derived bacterial metabolite, as a key regulator of mucosal healing. IPA activates PPARα in intestinal epithelial cells, enhancing transcription of the ketogenic enzyme HMGCS2 and boosting β‑hydroxybutyrate (BHB) production. BHB in turn stimulates LGR5⁺ intestinal stem cells, accelerating epithelial regeneration. Using germ-free models and the IPA‑producer Peptostreptococcus russellii, we show that dietary tryptophan and specific commensals sustain luminal IPA levels, which are critical for recovery in colitis. Restoration of IPA or BHB attenuates inflammation and barrier defects, outlining a microbiota‑metabolite‑stem cell axis that could be therapeutically targeted in inflammatory bowel disease and other barrier disorders. Here, Zhang et al. demonstrate that the microbial metabolite indole-3-propionic

Gut microbes produce IPA, activating PPARα, boosting HMGCS2 for ketogenesis. This enhances BHB, aiding LGR5+ stem cells for faster colitis healing. PMID:41651833, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-69341-z #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

1 0 0 0

Shicheng Guo

@shihcheng.bsky.social

22 hours ago

Regulation of STING activation by phosphoinositide and cholesterol | Nature Stimulator of interferon genes (STING) is an essential adaptor in the cytosolic DNA-sensing innate immune pathway1. STING is activated by cyclic GMP–AMP (cGAMP) produced by the DNA sensor cGAMP synthase (cGAS)2–5. cGAMP-induced high-order oligomerization and translocation of STING from the endoplasmic reticulum to the Golgi and post-Golgi vesicles are critical for STING activation6–11. Other studies have shown that phosphatidylinositol phosphates (PtdInsPs) and cholesterol also have important roles in STING activation, but the underlying mechanisms remain unclear12–17. Here we demonstrate that cGAMP-induced high-order oligomerization of STING is enhanced strongly by phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2 and PtdIns(4,5)P2, and by PtdIns4P to a lesser extent. Our cryo-electron microscopy structures reveal that PtdInsPs together with cholesterol bind at the interface between STING dimers, directly promoting the high-order oligomerization. The structures also

Phosphoinositides and cholesterol crucially regulate STING's role in immune response by managing its transport from ER to Golgi upon cGAMP-induced oligomerization. PMID:41639452, Nature 2026, @Nature https://doi.org/10.1038/s41586-025-10076-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 1 0 0

Shicheng Guo

@shihcheng.bsky.social

1 day ago

https://doi.org/10.1001/jamapsychiatry.2026.0086 No description available

New JAMA Psychiatry paper: Clozapine is tested after 1 antipsychotic failure in FEP. Study spans 7 sites in China, 2 randomizations! PMID:41811299, JAMA Psychiatry 2026, @JAMAPsych https://doi.org/10.1001/jamapsychiatry.2026.0086 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

7 3 0 0

Shicheng Guo

@shihcheng.bsky.social

1 day ago

Cancer cachexia in STK11/LKB1-mutated non-small cell lung cancer is dependent on tumor-secreted GDF15 | Nature Communications Cachexia is a wasting syndrome involving adipose, muscle, and body weight loss in cancer patients. Tumor loss-of-function mutations in STK11/LKB1, a regulator of AMP-activated protein kinase, induce cancer cachexia (CC) in preclinical models and are linked to weight loss in non-small cell lung cancer (NSCLC) patients. This study examines the role of the integrated stress response (ISR) cytokine growth differentiation factor 15 (GDF15) in regulating cachexia using patient-derived and engineered STK11/LKB1-mutant NSCLC lines. Tumor cell-derived serum GDF15 levels are elevated in mice bearing these tumors. Treatment with a GDF15-neutralizing antibody or silencing GDF15 from tumor cells prevents adipose/muscle loss, strength decline, and weight reduction, identifying tumors cells as the GDF15 source. Restoring wild-type STK11/LKB1 in NSCLC lines with endogenous STK11/LKB1 loss reverses the ISR and reduces GDF15 expression rescuing the cachexia phenotype. Collectively, these findings implic

GDF15 is key to cachexia in STK11/LKB1-mutant lung cancer. Blocking it could halt muscle, fat, and weight loss. Insights from patient-derived models. PMID:41617691, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-68702-y #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

5 1 0 0

Shicheng Guo

@shihcheng.bsky.social

1 day ago

De novo design of GPCR exoframe modulators | Nature G-protein-coupled receptors (GPCRs) are important therapeutic targets and have been targeted mainly through their orthosteric site, where the endogenous agonist binds1. However, allosteric modulation has emerged as a promising and innovative strategy in the realm of GPCR drug discovery1. Here, drawing inspiration from the natural regulation of GPCRs by transmembrane proteins, we have developed GPCR exoframe modulators (GEMs), de novo designed proteins that specifically target the transmembrane domain of GPCRs. Utilizing a hallucination-like design approach, we crafted GEMs with three strategic structural prompts to achieve the desired binding modes. We selected the dopamine D1 receptor as a prototypical model and systematically investigated four GEMs. Structural studies and functional assays revealed that these GEMs bind to the transmembrane domains and function as diverse allosteric modulators, including agonist-positive allosteric modulator, negative allosteric modulator and biased a

Innovative GPCR exoframe modulators tune allosteric sites for precise targeting. De novo proteins open pathways for future solutions in drug discovery. PMID:41699180, Nature 2026, @Nature https://doi.org/10.1038/s41586-025-09957-1 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

0 1 0 0

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

1 day ago

Inside AJHG: A Chat with Kiran Kumar Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Kiran to discuss her recent paper, “MetaGLIMPSE: Meta-...

@ajhgnews.bsky.social sat with Kiran Kumar in the latest "Inside AJHG" to discuss her recently published paper, “MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes.”➡️ www.ashg.org/publications-news/ashg-n... #ASHG

1 0 0 0

Shicheng Guo

@shihcheng.bsky.social

1 day ago

Composite SMG5-SMG6 PIN domain formation is essential for NMD | Nature Communications Nonsense-mediated mRNA decay (NMD) relies on the coordinated assembly and action of multiple protein factors. Degradation of target mRNAs begins with endonucleolytic cleavage near premature stop codons, but the mechanisms of endonuclease activation and regulation remain unclear. Using structural predictions, biochemical in vitro assays, and cell-based NMD analysis, we show that SMG5 and SMG6 interact via their PIN domains to form a composite interface (cPIN) with full endonuclease activity. In vitro reconstituted SMG5-SMG6 cPIN heterodimers show high activity, as SMG5 completes the SMG6 active site and substrate binding site. Mutations in residues at their predicted interaction surfaces, RNA-binding sites, or active site attenuate or abolish cPIN activity in vitro and impair cellular NMD. Our findings demonstrate how paralogous PIN domains complement each other to assemble a highly active endonuclease in NMD, providing a structural and mechanistic explanation for efficient NMD sub

New insights into NMD: SMG5 and SMG6 form a composite PIN domain, critical for mRNA decay via endonucleolytic cleavage near premature stop codons. PMID:41714610, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-69819-w #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

4 2 0 0

Shicheng Guo

@shihcheng.bsky.social

1 day ago

LLM-assisted systematic review of large language models in clinical medicine | Nature Medicine Clinical evaluations of large language models (LLMs) have rapidly expanded since 2022, yet their evidence base remains opaque. The overwhelming volume of studies creates challenges for manual curation and review. However, LLMs themselves offer the scalability and capability to evaluate the ever-growing evidence base. This LLM-assisted review identified 4,609 peer-reviewed studies in clinical medicine between January 2022 and September 2025, equating to roughly 3.2 papers per day. Only 1,048 studies used real-world patient data and of these only 19 were prospective randomized trials; most addressed simulated scenarios (n = 1,857) or exam-style tasks (n = 1,704). ChatGPT and related OpenAI models constitute 65.7% of evaluated models, with Gemini/Bard a distant second constituting 13.1% of evaluated models. Patient-facing communication and education comprised 17% of tasks, followed by knowledge retrieval, and education and assessment simulation. Across 1,046 head-to-head comparisons, LLMs

Exploring LLMs in clinical medicine: 4,609 studies reviewed from Jan 2022-Sep 2025, averaging 3.2 papers/day. Only 1,048 detailed. PMID:41776077, Nat Med 2026, @NatureMedicine https://doi.org/10.1038/s41591-026-04229-5 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

6 1 0 0

Shicheng Guo

@shihcheng.bsky.social

2 days ago

Light-induced assembly and repeatable actuation in Ca2+-driven chemomechanical protein networks | Nature Communications Programming rapid, repeatable motions in soft materials has remained a challenge in active matter and biomimetic design. Here, we present a light-controlled chemomechanical network based on Tetrahymena thermophila calcium-binding protein 2 (Tcb2), a Ca2+-sensitive contractile protein. These networks—driven by Ca2+-triggered structural rearrangements—exhibit dynamic self-assembly, spatiotemporal growth, and contraction rates comparable to actomyosin systems. By coupling light-sensitive chelators for optically triggered Ca2+ release, we achieve precise growth and repeatable mechanical contractility of Tcb2 networks, revealing emergent phenomena such as boundary-localized active regions and density gradient-driven reversals in motion. A coupled reaction-diffusion and elastic model explains these dynamics, highlighting the interplay between chemical network assembly and mechanical response. We further demonstrate active transport of particles via network-mediated forces in vitro and implem

Discover proteins that mimic muscle movements: Tcb2 networks show rapid, repeatable Ca²⁺-triggered actions with light control, rivaling actomyosin speeds. PMID:41723139, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-69651-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

6 0 0 0

Shicheng Guo

@shihcheng.bsky.social

2 days ago

Roles of microtubules and LIS1 in dynein transport machinery assembly | Nature Cytoplasmic dynein-1, a microtubule (MT)-based motor protein, requires dynactin and a coiled-coil adaptor to form the processive dynein–dynactin–adaptor (DDA) complex1,2. The roles of MTs and dynein regulator lissencephaly-1 (LIS1) in DDA assembly have remained elusive. Here we use cryo-electron microscopy to determine the structural basis of MT- and LIS1-mediated DDA assembly. We show that an adaptor-independent dynein–dynactin complex spontaneously forms on MTs with an intrinsic 2:1 stoichiometry in a highly efficient manner, driven by parallel alignment of dynein tails upon MT binding. Adaptors can wedge into and exchange within the assembled MT-bound dynein–dynactin complex; these processes are enabled by relative rotations between dynein and dynactin and facilitated by the dynein light-intermediate chains that assist the adaptor ‘search’ mechanism. Although LIS1 is dispensable for efficient DD(A)–MT assembly, its presence expands the conformational landscape of DD(A) assemblies on

Study reveals dynein motor protein spontaneously forms a 2:1 dynein-dynactin complex on microtubules. LIS1's role in this assembly unveiled via cryo-EM. PMID:41708859, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10153-y #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

16 5 0 0

Shicheng Guo

@shihcheng.bsky.social

2 days ago

https://www.cell.com/ajhg/fulltext/S0002-9297(26)00029-7 No description available

Exciting insights from the 2025 ASHG address in Boston: advancing genetics with 10 key breakthroughs impacting 7 diseases! #HumanGenetics PMID:41795467, Am J Hum Genet 2026, @AJHGNews www.cell.com/ajhg/fulltext/S0002-9297... #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

5 1 1 0

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

2 days ago

@hggadvances.bsky.social's latest article introduces practical approaches for leveraging multiple observations to assess impacts on GWAS power, SNP-heritability, gene set enrichment, and polygenic prediction: www.cell.com/hgg-advances/fulltext/S2... #ASHG #HumanGenetics

1 1 0 0

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

2 days ago

Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research Despite increasing focus on the intersection of genetic and social risk factors on health, heterogeneity in how these factors are measured, distributed, and analyzed across populations and datasets co...

The authors of the @ajhgnews.bsky.social latest article explore the opportunities and challenges of harmonizing data across cohorts & biobanks & outline key ethical considerations for conducting or reporting this work: https://bit.ly/4dbA3JZ #ASHG @prsmethods.bsky.social

1 1 0 0

Shicheng Guo

@shihcheng.bsky.social

2 days ago

https://doi.org/10.1093/nar/gkaf1524 No description available

Discover how Cdn1's structural flexibility allows it to bind multiple cOA types and activate CRISPR defenses in prokaryotes! 📖🔬🧬 PMID:41569151, Nucleic Acids Res 2026, @NAR_Open @OTSociety @NAR_Open https://doi.org/10.1093/nar/gkaf1524 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

1 0 0 0

Shicheng Guo

@shihcheng.bsky.social

3 days ago

Integrase anchors viral RNA to the HIV-1 capsid interior | Nature HIV-1 integrase (IN) promotes encapsulation of viral genomic RNA into mature viral cores, and this function is a target for ongoing antiretroviral drug development efforts1–3. Here we determined the cryogenic electron microscopy (cryo-EM) structure of a primate lentiviral IN in a complex with RNA, revealing a linear filament made of IN octamer repeat units, each comprising a pair of asymmetric homotetramers. The assembly is stabilized through IN–RNA interactions involving mainly the IN C-terminal domains and RNA backbone. The spacing and orientation of the IN filament repeat units closely matched those of consecutive capsid (CA) hexamers within the mature CA lattice. Using cryo-EM images of native purified HIV-1 cores, we refined the structure of the IN filament as it propagates along the luminal side of the CA lattice. Each IN tetramer within the filament nestled in a CA hexamer, engaging closely with the major homology regions. Substitutions of residues involved in IN–CA co

Cryo-EM reveals HIV-1 integrase forms linear octameric filaments encapsulating viral RNA, crucial for drug design. Explore this structural insight! PMID:41708858, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10154-x #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

2 0 0 0

Shicheng Guo

@shihcheng.bsky.social

3 days ago

https://doi.org/10.1126/science.adw4937 No description available

Poxvirus M3.1 triggers an antiviral NF-κB response in human monocytes, revealing an effector-triggered immunity (ETI) pathway. Fascinating insight! PMID:41678605, Science 2026, @ScienceMagazine https://doi.org/10.1126/science.adw4937 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

8 4 0 0

Shicheng Guo

@shihcheng.bsky.social

3 days ago

https://doi.org/10.1093/nar/gkag021 No description available

BAF phosphorylation is crucial for anchoring centromeric heterochromatin to the NE, affecting genome organization in eukaryotes. PMID:41569157, Nucleic Acids Res 2026, @NAR_Open https://doi.org/10.1093/nar/gkag021 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 1 2 0

Shicheng Guo

@shihcheng.bsky.social

4 days ago

https://doi.org/10.1001/jamadermatol.2025.5973 No description available

A man in his 30s with 2-month scalp and lateral eyebrow hair loss. Negative hair-pull test. Diagnosis? Share thoughts! PMID:41671003, JAMA Dermatol 2026 https://doi.org/10.1001/jamadermatol.2025.5973 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

2 2 0 0

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

4 days ago

Steven Gazal, PhD

@hggadvances.bsky.social sat with Steven Gazal, PhD, in the latest "Inside HGG Advances" to discuss his recently published paper, “Evaluating genetic ancestry inference from single-cell transcriptomic datasets.”➡️ https://bit.ly/4b3MQgn #ASHG #GeneticsDiscoveries

2 4 0 0

Shicheng Guo

@shihcheng.bsky.social

4 days ago

Comprehensive profiling of CRISPR/dCas9 epigenome editors indicates a complex link between on and off target effects | Genome Biology | Springer Nature Link CRISPR/dCas9-based epigenome editing systems, including DNA methylation epimodifiers, have greatly advanced molecular functional studies, revolutionizing t

CRISPR/dCas9 epigenome editors show complex on-target and off-target effects, prompting better design for precision. Optimization is key! PMID:41620608, Genome Biol 2026 @OTSociety @NAR_Open https://doi.org/10.1186/s13059-026-03967-6 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

4 2 0 0

Shicheng Guo

@shihcheng.bsky.social

4 days ago

https://doi.org/10.1038/s41556-026-01876-1 No description available

THY1⁺ CSCs drive metastasis via a pseudohypoxic state. Key roles: IL-6-MYC signaling, neutrophil mitochondria. Multi-omics reveal! PMID:41680445, Nat Cell Biol 2026, @NatureCellBio https://doi.org/10.1038/s41556-026-01876-1 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 1 0 0

Shicheng Guo

@shihcheng.bsky.social

5 days ago

https://doi.org/10.1126/science.adx1616 No description available

Explore sugarcane's complexity: 9-genome pangenome graph, 47-57 haplotypes/chromo, 74K-271K alleles. Revolutionizes multiomics! PMID:41643009, Science 2026, @ScienceMagazine https://doi.org/10.1126/science.adx1616 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

3 1 0 0

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

5 days ago

🚨New Journal Club Webinar! On March 18, join @tdrivas.bsky.social, MD, PhD, & Jessica Gold, MD, PhD, as they break down a 14,000+ patient study revealing striking disparities in who is evaluated for genetics care. Register now to hear directly from the authors: https://bit.ly/4qULIA5 #ASHG

2 0 0 1

Shicheng Guo

@shihcheng.bsky.social

6 days ago

Evolutionary dynamics of sex determination in Branchiostoma belcheri driven by repeated transposition of a single novel gene | Nature Communications Sex determination systems display striking evolutionary flexibility, yet the mechanisms underlying their transitions remain poorly understood. Using newly generated genome assemblies, we investigated the evolving sex-determining system in the amphioxus Branchiostoma belcheri. We identified two female-specific sex-determining regions (SDRs) on chromosome 13, both derived from independent transpositions of the autosomal gene tesD, which shows testis-specific expression in amphioxus species. CRISPR/Cas9 knockout experiments in Branchiostoma floridae confirmed that tesD functions as a male-determination gene, with loss of function producing an all-female phenotype. In B. belcheri, the older SDR (tesDwa) inserted into the coding region of twai, while the younger SDR (tesDwb), flanked by active Zator-1 transposons, inserted into the 3′ UTR of vps9c and later translocated to autosomes in ~10% of individuals. Transcriptomic analyses revealed that W-linked tesDwa and tesDwb produce antisen

Study reveals sex determination in Branchiostoma belcheri evolves via tesD gene transposition on chromosome 13. Fascinating insights! PMID:41530154, Nat Commun 2026, @NatureComms @OTSociety @NAR_Open https://doi.org/10.1038/s41467-026-68322-6 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

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Posts tagged #ASHG