208 papers
This study utilizes human polymorphism data to demonstrate that germline mutation rates at CpG sites are shaped by a complex interplay between cytosine methylation status and flanking nucleotide sequences, revealing both conserved intrinsic mutability patterns and lineage-specific evolutionary changes in DNA repair mechanisms.
This study identifies two paralogous guanine deaminases, *gda-1* and *gda-2*, in *C. elegans* that regulate purine homeostasis and prevent xanthine stone formation, revealing that *gda-2* was likely acquired from bacteria via horizontal gene transfer to shape the nematode's metabolic network.
An analysis of 12,888 STEC genomes in England from 2016 to 2024 reveals a significant temporal shift toward non-O157 serogroups, particularly O26:H11 and O145:H28, driven by the widespread and increasing prevalence of the high-risk stx2a toxin subtype, underscoring the critical value of genomic surveillance for monitoring emerging public health threats.
This study demonstrates that a single-nucleotide polymorphism in the sunflower cell-wall invertase gene (HaCWINV2) alters nectar sugar composition, which in turn drives distinct shifts in microbial diversity and pollinator foraging behavior, revealing a direct genetic link that cascades through the plant-pollinator-microbe ecosystem.
This study demonstrates that bleomycin induces active-centromere DNA damage and incomplete repair in fibroblasts, leading to centromeric chromatin mislocalization into the cytoplasm, which mirrors genomic instability features observed in systemic sclerosis.
This study employs a multi-modal deep learning platform to demonstrate that dual inhibition of HDAC and LSD1 enzymes in cancer cells alters chromatin accessibility and nucleosome positioning, revealing a JunB-mediated mechanism that displaces the CoREST-RUNX complex to trigger apoptosis and suggesting optimized combinatorial epigenetic therapies.
This study analyzes 399 shotgun genomes from the Szekesfehervar royal necropolis to reveal that the medieval Hungarian elite underwent significant genomic homogenization through admixture with eastern conquering groups and shifting European ancestry, while lacking large continuous kinship networks and displaying strong affinities with both Central Asian and neighboring Central European populations.
This paper introduces GRG v2, a highly optimized graph-based genotype format, and grapp, a corresponding Python library, which together enable orders-of-magnitude faster and more memory-efficient whole-genome analyses, such as PCA and GWAS, on biobank-scale datasets compared to traditional methods.
This study demonstrates that ethyl methane sulfonate (EMS) mutagenesis effectively induced heritable phenotypic variation in cowpea cultivar 'Wang Kae', with a 20 mM treatment significantly enhancing yield and identifying superior mutant genotypes B33 and D56 for future breeding programs.
This study presents the first genome-wide in vivo screen identifying 146 conserved *Streptococcus* genes and pathways essential for infective endocarditis fitness, revealing broad evolutionary conservation and novel targets for multi-target antimicrobial strategies.
Genomic analysis of a rural English cemetery spanning the Norman Conquest reveals that while the population carried mixed Scandinavian, Saxon, and French ancestry, there was no abrupt genetic discontinuity in 1066 CE, indicating that the Conquest's demographic impact was limited to the elite rather than causing widespread population replacement in rural southern England.
By leveraging high-quality telomere-to-telomere genome assemblies, this study extends coalescent-based inference to deep time scales, revealing contemporaneous ancestral population size peaks in humans, chimpanzees, and bonobos that suggest a complex speciation process rather than a clean divergence from a panmictic common ancestor.
This study identifies a genetic variant (rs17437411) that disrupts a newly characterized homeotic long noncoding RNA called HOTSCRAMBL, which is essential for regulating HOXA gene expression, maintaining hematopoietic stem cell self-renewal, and supporting the development of HOXA-dependent acute myeloid leukemias.
By integrating chromatin-based variant-to-gene mapping with cell-specific functional validation in *Drosophila* and zebrafish, this study identifies the conserved glial regulator AP3B2 (ruby) as a key effector of excessive daytime sleepiness, establishing a generalizable framework for linking non-coding GWAS variants to cell-type-specific sleep mechanisms.
This study reveals that telomeric amplicons of *SUL1* and *Y'* in *Saccharomyces cerevisiae* arise via a microhomology-mediated break-induced replication mechanism termed "pseudo-rolling circle," where unprotected telomeres invade internal telomere sequences to generate tandem repeats in a single event, a process also implicated in similar amplifications on human chromosome 18.
This study establishes optimized non-viral delivery strategies and template designs that enable highly efficient, ultra-large (up to 10 kb) DNA integrations in primary human cells, demonstrating the functional viability of these modifications for advancing next-generation cellular therapies.
This study enhances GWAS performance and polygenic score prediction in underrepresented South Asian populations by refining sample identification through machine learning, utilizing ancestry-matched imputation panels, and incorporating environmental covariates to reduce sex bias and improve predictive accuracy.
This study utilizes a stochastic agent-based model to demonstrate that the population structure of *Plasmodium falciparum* and the reliability of genomic surveillance metrics are determined not by transmission intensity alone, but by its complex, nonlinear interaction with standing genetic diversity across a transmission gradient.
This study demonstrates that the meiotic recombination rate in *Saccharomyces cerevisiae* is highly evolvable under divergent selection, achieving significant local changes within ten generations through the selection of specific haplotypes and the reduction of heterozygosity, though genome-wide effects varied across independent lineages.
Heterologous expression of the human cohesin complex in *Saccharomyces cerevisiae* fails to rescue yeast cohesin mutants and instead induces a dominant-negative phenotype by forming dysfunctional hybrid complexes with endogenous yeast cohesin rings, leading to cohesion dysregulation and DNA damage sensitivity.