407 papers
The study reveals that the conserved transcription factor CLAMP regulates context-specific co-transcriptional splicing by directly binding both GA-rich DNA and target RNAs via its prion-like domain, thereby modulating the dynamics of hnRNPA2/B1 family proteins to ensure precise sex-specific transcript diversity.
TranslAGE is a comprehensive, publicly available platform that harmonizes 179 human blood DNA methylation datasets to systematically validate and benchmark 41 epigenetic aging biomarkers across four performance domains (Stability, Treatment response, Associations, and Risk) using the unified STAR framework, thereby establishing a standardized, reproducible resource to accelerate the clinical translation of epigenetic aging biomarkers.
This study constructs a high-quality, chromosome-scale pangenome for the grain amaranth species complex, revealing extensive structural variation, conserved genomic architecture, and specific genetic changes associated with domestication and flowering time adaptation that offer valuable targets for crop improvement.
This study introduces a single-cell lentiviral MPRA (sc-lentiMPRA) to profile synthetic enhancers across differentiating blood stem cells, revealing that enhancer specificity and activity are encoded by motif affinity, which dictates distinct linear or nonlinear responses to transcription factor expression gradients.
This study systematically maps stop-codon-free regions across primate genomes to characterize their structural features and identify potential substrates, such as exon shadows and intronic ORFs, that serve as reservoirs for the de novo emergence of new protein-coding genes.
This study demonstrates that 16S rRNA sequencing of non-invasive urogenital and skin swabs can accurately differentiate between healthy and lesioned Atlantic salmon, enabling the development of novel microbiome-based health scores for proactive disease management in aquaculture.
This study benchmarks the Ultima UG100 and Illumina NovaSeqX platforms using the HG002 reference set, revealing that while the UG100's error burden is significantly reduced within its high-confidence regions, it still exhibits context-specific genotyping errors—particularly in homopolymers, GC-rich areas, and read tails—that exclude a notable fraction of clinically relevant variants.
This study presents the high-quality genome assembly and preliminary annotation of the ambush bug *Phymata mystica*, revealing its unique single X chromosome structure and conserved venom protein repertoire to provide new insights into the evolution of venom in Heteroptera.
By analyzing 36 chromosome-level genomes of sedges and rushes, this study reveals that their unique oligocentric organization drives rapid chromosomal rearrangement and karyotype evolution, while also identifying potential evolutionary reversions to monocentricity and transitions to holocentricity within the clade.
This study introduces CardioAkita, a machine-learning model that predicts how structural variants disrupt 3D chromatin interactions, demonstrating that such disruptions lead to aberrant gene expression and contribute to the genetic etiology of congenital heart disease.
This study employs single-cell CRISPR activation screens in primary human B cells to systematically link hundreds of non-coding autoimmune risk loci to their specific target genes, revealing shared regulatory mechanisms and a gain-of-function variant that drives autoimmunity through the transcription factor cREL.
This study characterizes a multidrug-resistant *Salmonella* Amager strain isolated from a Chilean river that carries the blaCTX-M-65-positive pESI megaplasmid, highlighting the emergence of a globally significant lineage linked to human infections in the US and UK and underscoring the critical role of environmental surveillance in detecting such threats.
This study reveals that while X-chromosome inactivation (XCI) erosion varies in CRISPR-edited female iPSCs but remains largely preserved in their neural derivatives, XIST-mediated epigenetic silencing still drives significant allelic imbalance in both X-linked and autosomal genes, thereby confounding transcriptomic analyses of differentially expressed genes in neurodevelopmental disease modeling.
This study presents an integrated single-cell CRISPR screening framework combined with deep generative models and chemical validation to systematically map kinase-dependent genetic programs governing glioblastoma immune evasion and identify therapeutic targets that enhance T cell-mediated tumor killing.
By utilizing k-mer-based approaches and a new chromosome-scale assembly, this study traces the origins of non-brittle rachis alleles in wheat to distinct wild emmer subpopulations, demonstrating that key domestication traits arose from standing genetic variation in the wild prior to agriculture.
By integrating extensive genomic and transcriptomic data from a sex-balanced chicken cohort, this study constructs a comprehensive atlas of sex-specific genetic regulatory effects, revealing how structural variants and cell-type composition drive sexual dimorphism in endocrine tissues and offering insights into the molecular basis of complex traits in vertebrates.
This study presents the complete assembly, annotation, and comprehensive characterization of the *Adansonia digitata* chloroplast genome, revealing its conserved quadripartite structure, high similarity to related *Adansonia* species, and phylogenetic placement within Malvaceae to support future genomic research on this economically significant plant.
This study integrates an AI-driven CRISPR screen with multi-omics validation to identify ALOX5 and OXTR as novel drug targets for psoriasis, demonstrating that their inhibition via existing topical agents effectively suppresses inflammation and epidermal hyperproliferation in preclinical models.
This study demonstrates that early life adversity in the Future of Families and Child Wellbeing Study cohort leads to persistent, non-random DNA methylation changes in functional genomic regions that regulate gene expression in disease-relevant tissues, thereby establishing a biological link between early experiences and later mental health outcomes.
This study establishes that the rapid, transcription-dependent depletion of the histone chaperone FACT in murine embryonic stem cells triggers an irreversible temporal cascade of chromatin destabilization and transcriptional collapse, beginning with nucleosome phasing disruption within 10 minutes and culminating in global transcriptional failure by 2 hours.