218 papers
This study demonstrates that while whole-genome sequencing generally yields superior polygenic prediction performance compared to genotyping arrays—particularly when using advanced methods like PRS-CS—the extent of this advantage is context-dependent and primarily driven by the technology's ability to capture causal variants across different traits and populations.
This study establishes a highly sensitive phage display-mediated immuno-PCR (PD-iPCR) platform, utilizing high-affinity nanobodies and epitope-tagged fly lines, to successfully detect and quantify low-abundance circulating proteins like ImpL2 in the limited hemolymph of Drosophila, thereby overcoming the limitations of traditional ELISA for studying interorgan communication.
Despite the demographic success of serial translocations in establishing growing populations of critically endangered Anegada iguanas, the study reveals that these events caused significant genetic erosion and potential inbreeding depression due to severe founder effects, highlighting a disconnect between census size and long-term genetic viability.
This study utilized genome-wide association analysis in outbred Sprague-Dawley rats to identify specific genetic loci and candidate genes linked to anxiety-like and pain sensitivity traits relevant to substance use, demonstrating that combining outbred and selectively bred rat models provides a more comprehensive understanding of the genetic architecture underlying addiction liability.
This study demonstrates that altering the dosage of meiotic crossover-associated RING finger proteins (Vilya, Narya, and Nenya) in *Drosophila* directly modulates crossover number and interference, thereby supporting a model where crossover designation is driven by the coarsening of these proteins within the synaptonemal complex.
This paper provides a formal statistical justification for using standard two-sample Mendelian randomization with binary traits by demonstrating that, under a liability-threshold framework with small genetic effects, conventional methods validly estimate scaled causal effects on the underlying continuous liability scale without requiring methodological modifications.
This study identifies the GTPase-activating protein CG42795 (and its human orthologue TBC1D30) as a potent neuronal regulator of ageing in *Drosophila melanogaster*, demonstrating that its silencing enhances Rab2-mediated autophagy, thereby improving locomotor function and extending lifespan.
The paper introduces a coordinate system and hypothesis testing framework to distinguish between cis and trans regulatory contributions to gene expression differences, demonstrating its ability to yield distinct assignments and model context dependency in yeast, human-chimpanzee, and mouse studies compared to previous methods.
The paper introduces QTLretrievR, an R package that simplifies and accelerates the identification and downstream analysis of molecular quantitative trait loci in systems genetics by integrating established tools with parallelization to make complex genomic analyses more accessible and efficient.
This study validates three human TEX11 variants in mouse models using CRISPR/Cas9, demonstrating that a frameshift mutation causes complete azoospermia and infertility, a missense mutation has no effect, and a third variant results in partial spermatogenic failure with incomplete penetrant infertility.
A zebrafish screen of schizophrenia risk genes reveals that distinct mutations in *sp4* and *atp1a3a* converge on the dysregulation of cholesterol metabolism in glial cells, suggesting that disrupted lipid homeostasis is a shared molecular feature of schizophrenia disease biology.
This study identifies a small peptide, C43-4, which activates the Anaphase Promoting Complex (specifically APCCdh1 and APCCdc20) in yeast to reverse age-related substrate accumulation and extend both replicative and chronological lifespans, demonstrating conserved anti-aging effects in *C. elegans*.
This study reveals that the multi-zinc-finger protein ZNF-236 actively maintains the default silencing of stress-inducible heat shock protein genes in *C. elegans* under normal conditions, challenging the assumption that their quiescence is a passive state.
This study utilizes cell-specific mouse models to demonstrate that while neuronal TRPA1 mutations mediate acute nociception in Familial Episodic Pain Syndrome, Schwann cell TRPA1 mutations drive mechanical allodynia and trigger pain via oxidative stress, highlighting distinct therapeutic targets for this disorder.
This proof-of-concept study in Pacific white shrimp demonstrates that prioritizing SNPs located in muscle-specific bivalent chromatin regions using epigenomic annotations significantly enhances the accuracy and cross-population robustness of genomic prediction, offering a cost-effective strategy for designing low-density genotyping panels in animal breeding.
This study demonstrates that a large deletion in the *Pkhd1* locus causes congenital glaucoma in mice by disrupting the genomic architecture required for *Tfap2b* expression, thereby providing a causal mechanism for the previously observed association between *PKHD1* variants and primary open-angle glaucoma in humans.
UniVI is a scalable mixture-of-experts -variational autoencoder framework that unifies diverse multimodal single-cell data into a shared latent space, enabling robust integration, denoising, and label transfer across paired, tri-modal, and partially observed mosaic study designs without requiring curated feature links or pre-annotated references.
The study demonstrates that eliminating maternally deposited DNA polymerase theta (Polθ) in zebrafish embryos prevents error-prone microhomology-mediated end-joining, thereby enabling highly efficient and error-free prime editing.