210 papers
The paper introduces ECHOS and its optimized version ECHOS+, a scalable platform that integrates high-resolution imaging with high-throughput sequencing to enable spatially resolved epigenome profiling at subcellular resolution, revealing distinct gene regulatory mechanisms in human tissues, micronuclei, and aging-related chromatin changes.
This study constructed a single-cell lung eQTL dataset from 129 Korean never-smokers to identify East Asian-specific and alveolar cell-driven susceptibility genes for lung cancer, experimentally validating the role of TCF7L2 in lung adenocarcinoma growth.
This paper derives a mechanistic, evolutionary-based linear mixed model that replaces the phenomenological -model by linking effect size frequency dependence to interpretable parameters like mutational variance and selection intensity, thereby enabling both the inference of evolutionary dynamics and improved genetic prediction via REML and BLUP.
This study demonstrates that the local genomic estimated breeding values (localGEBV) method, which aggregates marker effects within linkage disequilibrium blocks, outperforms traditional genome-wide association studies in discovering quantitative trait loci and predicting phenotypes for complex traits like barley row type.
This study identifies SET-19 as a somatic-specific H3K23 methyltransferase in *C. elegans* that deposits the H3K23me3 mark at heterochromatic regions to repress gene expression and regulate development, without affecting germline RNAi or transgenerational epigenetic inheritance.
This study reveals that granulin deficiency drives the lysosomal accumulation of a pathogenic TMEM106B C-terminal fragment, a process mitigated by protective TMEM106B alleles through dimerization and reversible by progranulin supplementation, thereby elucidating the mechanistic link between these genes in frontotemporal dementia.
Reduction of the *Indy* gene in *Drosophila* extends lifespan by modulating the gut microbiome and suppressing JAK/STAT signaling to preserve intestinal homeostasis, although the microbiome itself is not strictly required for this longevity effect.
The paper introduces CACTI, a novel method that significantly enhances chromatin quantitative trait loci (cQTL) mapping by leveraging correlations between neighboring regulatory elements, thereby detecting substantially more cQTL signals and uncovering unique regulatory mechanisms for complex traits that are missed by traditional approaches and eQTL analysis alone.
CleanFinder is a secure, browser-native, client-side application that unifies amplicon definition and comprehensive sequencing analysis to enable researchers to accurately quantify genome editing outcomes and assess allelic dropout without requiring bioinformatics expertise or data uploads.
This study employs an integrative statistical framework to demonstrate that the conserved genetic susceptibility locus HrS43 influences severe disease outcomes in both SARS-CoV and SARS-CoV-2 infections through distinct, virus-specific immune mediators, thereby linking host genetics to immunopathology across species.
This study demonstrates that homozygosity for both rare and common hypomorphic IL23R variants impairs IL-23-dependent IFN-gamma production in innate immune cells, thereby conferring a specific genetic predisposition to tuberculosis while preserving immunity against less virulent mycobacteria.
This study demonstrates that the synergistic combination of multiple detoxification enzyme overexpressions and target-site mutations drives extreme insecticide resistance in *Anopheles gambiae*, while simultaneously revealing that P450-mediated resistance creates a vulnerability to pro-insecticides that can inform new resistance management strategies.
Genome-wide analysis of 209 ancient individuals from the eastern Colombian Andes reveals that a subsistence transition to maize cultivation occurred without population replacement among long-standing local hunter-gatherers, while a distinct genetic turnover associated with the emergence of the Herrera culture approximately 2,200 years ago was driven by the migration of new groups with mixed Amazonian and Chibchan-related ancestry.
This study analyzes ancient genomes from the Altai and Ob regions to reveal a 1,400-year population history characterized by Iron Age continuity, a significant East Asian genetic influx linked to the spread of Turkic culture, and the identification of a unique Early Medieval lineage connecting Ancient North Eurasian hunter-gatherers to modern North Asians.
This study elucidates the shared genetic architecture of ten uterine disorders by identifying 31 independent susceptibility loci and demonstrating that recent human evolution has favored derived alleles that increase risk across multiple conditions, likely due to antagonistic selection.
In a study of 91 individuals in early-to-mid adulthood, DNA methylation clocks revealed that while saliva yields significantly higher age estimates than blood-derived tissues (buffy coat and PBMC), the latter two are comparable to each other, and all tissue types remain suitable for within-tissue aging research despite notable differences in heritability patterns.
This study utilized bioinformatics analysis of GEO datasets to identify and validate PCSK5, ZNF225, and H1FX as novel monocyte-associated diagnostic biomarkers for osteoporosis in women, while also characterizing their upstream transcriptional regulators.
This paper presents a comprehensive comparative dataset for 19 Caribbean tree species, integrating high-density SNP genetic data from SLAF-seq with functional traits, geographic distributions, and climatic associations to address the scarcity of genetic information in tropical biodiversity hotspots.
This study redefines the human rDNA gene unit pattern by identifying specific (CTTT)n and (CT)n microsatellite aggregations located ahead of and behind the gene, respectively, as distinct regulatory regions that replace the previously assumed monolithic intergenic spacer model.
This study identifies a burden of rare pathogenic variants in specific genes associated with pulmonary fibrosis risk and poor clinical outcomes, revealing that disrupted cytoskeletal organization is a key mechanism in the disease's pathogenesis.