218 papers
This study employs an integrative taxonomic approach to resurrect *Hypanus brevis* as a distinct species from the Eastern South Pacific, separating it from the Eastern North Pacific *H. dipterurus* based on genetic divergence and historical descriptions, while highlighting concerns over a severe genetic bottleneck in the Peruvian population that necessitates urgent conservation measures.
This study introduces the MiXeRSV tool to demonstrate that structural variants, despite comprising a small fraction of genetic variants, make substantial and often significant contributions to the heritability of numerous complex traits, particularly in hematological, metabolic, and cancer phenotypes, thereby helping to explain the gap between SNP-based and twin heritability estimates.
This study introduces a scalable, flexible platform for assembling precisely defined synthetic diets in *Drosophila*, which was used to generate a 51-diet array that successfully validated standard fitness outcomes and identified specific nutrient modifiers for a sulfite oxidase deficiency disease model.
Using a fuzzy regression discontinuity design on UK Biobank data, this study finds no causal evidence that an additional year of education affects telomere length decades later, challenging the prevailing view that education has long-lasting protective effects on biological aging.
This study identifies the transcription factor Cbr1 in *Rhodotorula toruloides* as a noncanonical regulator that coactivates genes for diverse carbon sources while specifically inhibiting glucose-mediated repression, revealing a tailored mechanism for nutrient sensing that challenges the canonical model of fungal carbon catabolite repression.
This study employs deep mutational scanning to comprehensively map the functional landscape of nearly all possible single amino acid changes in the SPOP protein, revealing distinct structural and genetic characteristics of variants that drive either tumor suppression or promotion in different cancer contexts.
This study identifies a conserved mammalian genomic signature of G-tract-AG motifs that represses splicing to maintain transcriptome integrity, where single-nucleotide variants disrupting these motifs relieve repression to generate transcript diversity and contribute to genetic diseases.
This paper provides an explicit theoretical framework and exact analytical results describing how rapid adaptation from standing genetic variation to sudden, extreme environmental changes distorts genetic diversity and neutrality statistics, offering a guide to distinguish these adaptive signatures from demographic effects in small populations.
This study demonstrates that MANF-based therapy clears mutant uromodulin in human kidney organoids modeling ADTKD by directly binding and repressing IP3R1 to enhance TRIB3-dependent, AMPK-induced autophagy, offering a potential treatment for this and other protein misfolding diseases.
This study introduces a unified analytical framework combining a depth-weighted quasi-binomial GWAS and cWAS to identify genetic loci regulating immune cell proportions and elucidate their causal impacts on autoimmune diseases, thereby linking noncoding genetic variants to specific cellular mechanisms underlying disease risk.
This study analyzes over 45,000 variants across 40 tumor suppressor genes to demonstrate that germline and somatic cancer mutations exhibit distinct mutational landscapes shaped by different selection pressures, including environmental factors and phenotypic constraints, which is critical for improving clinical variant interpretation.
This paper derives analytical expectations for the site frequency spectrum of neutral mutations linked to polymorphic structural variants to quantify and correct the resulting biases in standard genetic diversity estimators and neutrality tests.
This study analyzes HLA allele and haplotype distributions across 14 Russian ethnic groups using over 18,000 whole-genome sequencing samples to provide high-resolution, publicly available frequency data that addresses regional data gaps and demonstrates the utility of these statistics in understanding population-specific genetic risks for diseases like type 1 diabetes.
This study identifies a universally conserved mechanism in which the tRNA ligase AsnRS (and its mammalian homologs NARS1/NARS2) prevents untimely replication restart from RNA:DNA hybrids by capping exposed RNA 3' ends following Mfd-mediated removal of RNA polymerases.
This study validates two previously unrecognized genes, CNOT1 and CDC42BPB, as causes of congenital diaphragmatic hernia by demonstrating that patient-specific variants in mice produce distinct diaphragmatic defect patterns—ventral for Cdc42bpb and dorsal for Cnot1—that mirror the anatomical heterogeneity observed in human patients.
This study reveals that intensive malaria control efforts in Peru, specifically the PAMAFRO project, reshaped *Plasmodium falciparum* populations by creating a genetic bottleneck that, combined with a selective advantage unrelated to diagnostic evasion, drove the rapid fixation and clonal expansion of *hrp2/3*-deleted parasites that evade standard rapid diagnostic tests.
This study identifies that mutations in the chromatin-associated deubiquitinase *Mysm1* underlie the *meander tail* mouse phenotype, revealing a previously unknown requirement for MYSM1 in the compartment-specific development of the anterior cerebellum and linking the model to human hematological and pigmentation defects.
This study reveals that in stationary-phase yeast, the mitochondrial porin Por1 represses Snf1/AMP kinase signaling to restrict amino acid availability, thereby attenuating the replication of the L-A mycovirus.
By utilizing somatic mutations as markers, this study demonstrates that endometriosis lesions are oligoclonal structures originating from the normal endometrium, characterized by unrelated epithelial clones and distinct stromal cells that share similar mutation burdens and driver landscapes with their uterine counterparts.
This study introduces BayesR3AD, a unified Bayesian mixture model that jointly estimates additive and dominance effects, demonstrating improved genomic prediction accuracy for Holstein fertility and survival traits while effectively reverting to an additive model when dominance is absent.