210 papers
This paper presents an alignment-free pipeline for GT-seq that leverages high read depth and a diploid abundance model to accurately genotype microhaplotypes by identifying, cataloging, and assigning amplicon sequences without relying on traditional alignment-based variant calling.
This study reveals that three evolutionarily conserved, functional retrocopies of the stress-induced transcription factor ATF4 exist in humans and primates, where they are regulated by the integrated stress response and proteasome while actively altering the expression of canonical ATF4 target genes.
This study reveals that in wheat, large-scale chromosomal rearrangements in wild relatives combined with high local sequence similarity, rather than strict homoeologous group identity, drive preferential recombination and introgression of beneficial genes into syntenic regions of non-homoeologous wheat chromosomes.
By analyzing UK Biobank MRI and genetic data alongside external replication cohorts, this study identifies specific variance quantitative trait loci (vQTLs) and their underlying gene-environment and gene-gene interactions that influence body fat distribution, particularly liver fat, offering new insights for precision medicine.
This study demonstrates that the yeast proteins Rei1 and Reh1 facilitate the cytoplasmic loading of the ribosomal protein eL24 onto pre-60S subunits, a function revealed through the analysis of double mutants and the identification of bypass suppressors that restore eL24 incorporation.
This pilot study demonstrates the high efficiency and utility of a scalable approach for simultaneously tagging 30 essential *C. elegans* genes with three distinct fluorophores, successfully revealing novel expression patterns and subcellular localizations to pave the way for whole-genome proteome tagging.
This study demonstrates that virus-like particles (VLPs) serve as an efficient and versatile delivery system for CRISPR/Cas9 and other genome editing tools in pigs and chickens, overcoming previous delivery challenges and advancing applications in livestock improvement and One Health research.
The authors developed an automated, data-adaptive framework that optimizes clinical variant classification by applying gene-specific and domain-aggregate calibration to variant effect predictors, thereby significantly increasing both the volume and accuracy of evidence assigned to missense variants compared to traditional genome-wide methods.
By sequencing 21 ancient sheeppox virus genomes from Bronze Age remains and medieval parchments, researchers traced the virus's 3,500-year evolutionary history, revealing its divergence timeline, early gene inactivation events, and its long-standing threat to Eurasian food security.
This paper addresses the gap in breeding frameworks for interspecific groups by proposing and implementing a novel quantitative genetic model in R/C++ that jointly analyzes direct, intraspecific, and interspecific social genetic effects, thereby enabling accurate estimation of breeding values and simultaneous genetic gains in both sole crops and intercrops.
By integrating microsatellite genotyping, phylogenetic analyses, and geometric morphometrics, this study reveals that *Astyanax* sp. in Colombia's Magdalena basin comprises two distinct cryptic lineages exhibiting significant genetic and phenotypic differentiation, thereby highlighting the need for targeted conservation strategies amidst hydroelectric threats.
This study identifies novel noncoding 14q12 microdeletions downstream of the *FOXG1* gene that disrupt cis-regulatory elements and native genomic interactions to reduce *FOXG1* expression, thereby revealing a broader regulatory landscape contributing to neurodevelopmental disorders.
This study utilizes *Drosophila* models to demonstrate that different *NLGN3* autism-associated variants exert distinct functional impacts on synaptic architecture and sleep behavior, suggesting that de novo variants in females act primarily as gain-of-function mutations while maternally inherited variants exhibit mixed loss- and gain-of-function effects, thereby contributing to the phenotypic heterogeneity observed in autism spectrum disorder.
This study demonstrates that 2-5(H)-Furanone potently inhibits angiogenesis in both HUVEC and zebrafish models through the dose-dependent suppression of cell proliferation, migration, and tube formation, as well as the downregulation of key pro-angiogenic genes like VEGF and HIF-1, supported by molecular docking evidence of stable binding to critical targets.
Using long-read sequencing on *C. elegans* mutation accumulation lines, this study estimates a structural variant mutation rate of approximately 0.03 per genome per generation and demonstrates that natural selection efficiently removes these variants from both exonic and intergenic regions in wild populations.
This study utilizes a comprehensive transcriptome-wide computational analysis of 522 HNSC cases to reveal that IFN-γ paradoxically drives coordinated immunosuppression through a JAK-STAT-IRF8 signaling axis, identifying PDCD1LG2 and JAK2 as key mediators that suggest new combination immunotherapy strategies.
This study reveals that in *Saccharomyces cerevisiae*, the suppression of meiotic recombination near chromosome ends is achieved through separable mechanisms where the Dot1 methyltransferase and Sir complex independently downmodulate axis protein deposition and DNA double-strand break induction, respectively, alongside additional chromosome-specific factors.
This study systematically analyzes the reduced predictive accuracy of polygenic indexes for behavioral and social traits across non-European ancestries using UK Biobank and Health and Retirement Study data, revealing that while portability loss is most severe in African populations due primarily to genetic architecture differences, family-based GWAS approaches can modestly mitigate these disparities.
By analyzing over 3,000 human genomes, this study demonstrates that strong purifying selection suppresses deleterious mutations in conserved regions of the multicopy 47S rRNA genes, explaining why disease-causing variants in these highly expressed genes have historically remained undetected in association studies.
This genome-wide association study of 2,784 young adults identifies 32 significant genetic variants influencing specific food likings and broader dietary patterns, revealing that while genetic influences operate at both individual and pattern levels, findings show limited replication in older populations.