SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.

Limited whole genome sequencing (WGS) studies in Asian populations result in a lack of representative reference panels, thus hindering the discovery of ancestry-specific variants. Here, we present the South and East Asian reference Database (SEAD) panel ( https://imputationserver.westlake.

Neural and gaze pattern responses to happy faces in autism: Predictors of adaptive difficulties and re-evaluation of the social motivation hypothesis.

Background: The "Social Motivation" hypothesis posits that social deficits in autism spectrum disorder (ASD) arise from altered reward perception. However, few studies have examined neural and behavioral responses to social reward-related cues in low functioning ASD children with limited cognitive or language abilities.

Objective: This study investigated if young children with ASD show atypical gaze towards happy faces and its association with altered brain reward responses.

Ultrabroadband Visible-Near-Infrared Phosphor CaYMgGeO:Ce/Cr and Its Temperature Sensing.

With the wide application of phosphor conversion light-emitting diode (pc-LED) in nondestructive testing, spectral illumination, near-infrared (NIR) spectroscopy, agricultural medical care, and other fields, the ultrabroadband visible-NIR tunable emission phosphor is considered as the most promising fluorescent material. In this paper, Ce/Cr single-doped and codoped CaYMgGeO phosphors were successfully prepared by using the high-temperature solid-state method. Ce and Cr codoped phosphors show ultrabroadband visible-NIR emission from 480 to 900 nm with two emission peaks at visible 556 nm and infrared 758 nm.

SexAnnoDB, a knowledgebase of sex-specific regulations from multi-omics data of human cancers.

Background: Sexual differences across molecular levels profoundly impact cancer biology and outcomes. Patient gender significantly influences drug responses, with divergent reactions between men and women to the same drugs. Despite databases on sex differences in human tissues, understanding regulations of sex disparities in cancer is limited.

Unsupervised domain adaptive building semantic segmentation network by edge-enhanced contrastive learning.

Unsupervised domain adaptation (UDA) is a weakly supervised learning technique that classifies images in the target domain when the source domain has labeled samples, and the target domain has unlabeled samples. Due to the complexity of imaging conditions and the content of remote sensing images, the use of UDA to accurately extract artificial features such as buildings from high-spatial-resolution (HSR) imagery is still challenging. In this study, we propose a new UDA method for building extraction, the contrastive domain adaptation network (CDANet), by utilizing adversarial learning and contrastive learning techniques.

N-doped lignin-based activated carbon aerogel derived from bamboo black pulp liquor for efficient removal of malachite green in wastewater.

In this study, a lignin-based aerogel (LA) was prepared through acid precipitation of BPBL, followed by sol-gel method and freeze-drying. Additionally, a one-step activation-carbonization method was used to acquire nitrogen-doped lignin-based activated carbon aerogel (NLACA). The adsorption and catalytic degradation performance for malachite green (MG) were examined.

Structural characterization and hypoglycemic effect of polysaccharides of Polygonatum sibiricum.

Polygonatum sibiricum polysaccharide (PSP) was extracted and purified from raw material obtained from P. sibiricum. The structural features of PSP were investigated by Congo red, circular dichroism spectrum, high-performance gel permeation chromatography, scanning electron microscope, atomic force microscope, ultraviolet spectroscopy, and Fourier transform infrared spectroscopy analysis.

Recognition of TaeKwonDo kicking techniques based on accelerometer sensors.

TaeKwonDo (TKD) is a worldwide sport in both competitive among athletes and physical exercise among the public scenarios. Measuring TKD kicks have been studied a lot in a laboratory setting but rarely in a free-living situation. Machine learning algorithm combined with accelerometer data was used to study some martial art styles, e.

Loss-of-function mutation of REV1 (p.R704Q) mediates cetuximab primary resistance by activating autophagy in RAS-wild type metastatic colorectal cancer.

Cetuximab in combination with FOLFIRI/FOLFOX is the standard first-line treatment for patients with RAS wild-type metastatic colorectal cancer (mCRC). However, some patients experience rapid tumor progression after treatment with cetuximab (primary resistance). Our previous research identified a gene mutation, REV1 p.

Shared genetic architecture highlights the bidirectional association between major depressive disorder and fracture risk.

Background: There is limited evidence suggesting that osteoporosis might exacerbate depressive symptoms, while more studies demonstrate that depression negatively affects bone density and increases fracture risk.

Aims: To explore the relationship between major depressive disorder (MDD) and fracture risk.

Methods: We conducted a nested case-control analysis (32 670 patients with fracture and 397 017 individuals without fracture) and a matched cohort analysis (16 496 patients with MDD and 435 492 individuals without MDD) in the same prospective UK Biobank data set.

Genetic and microbial determinants of azoxymethane-induced colorectal tumor susceptibility in Collaborative Cross mice and their implication in human cancer.

The insights into interactions between host genetics and gut microbiome (GM) in colorectal tumor susceptibility (CTS) remains lacking. We used Collaborative Cross mouse population model to identify genetic and microbial determinants of Azoxymethane-induced CTS. We identified 4417 CTS-associated single nucleotide polymorphisms (SNPs) containing 334 genes that were transcriptionally altered in human colorectal cancers (CRCs) and consistently clustered independent human CRC cohorts into two subgroups with different prognosis.

Deciphering the complex relationship between type 2 diabetes and fracture risk with both genetic and observational evidence.

The 'diabetic bone paradox' suggested that type 2 diabetes (T2D) patients would have higher areal bone mineral density (BMD) but higher fracture risk than individuals without T2D. In this study, we found that the genetically predicted T2D was associated with higher BMD and lower risk of fracture in both weighted genetic risk score (wGRS) and two-sample Mendelian randomization (MR) analyses. We also identified ten genomic loci shared between T2D and fracture, with the top signal at SNP rs4580892 in the intron of gene .

Cucurbitacin B induces ferroptosis in oral leukoplakia via the SLC7A11/mitochondrial oxidative stress pathway.

Background: Oral leukoplakia (OLK), characterized by abnormal epithelial hyperplasia, is the most common precancerous oral mucosa lesion and is closely related to oxidative stress. Cucurbitacin B (CuB), a tetracyclic triterpenoid molecule derived from plants, has shown promising anti-proliferative and antioxidant effects in preclinical studies. However, whether CuB can play an antiproliferative role in OLK by regulating oxidative stress remains elusive.

Study of prognostic splicing factors in cancer using machine learning approaches.

Splicing factors (SFs) are the major RNA-binding proteins (RBPs) and key molecules that regulate the splicing of mRNA molecules through binding to mRNAs. The expression of splicing factors is frequently deregulated in different cancer types, causing the generation of oncogenic proteins involved in cancer hallmarks. In this study, we investigated the genes that encode RNA-binding proteins and identified potential splicing factors that contribute to the aberrant splicing applying a random forest classification model.

Burnout and depression in college students.

Research on burnout has garnered considerable attention since its inception. However, the ongoing debate persists regarding the conceptual model of burnout and its relationship with depression. Thus, we conducted a network analysis to determine the dimensional structure of burnout and the burnout-depression overlap.

Application of fixed-frequency ultrasound in the cultivation of Saccharomyces cerevisiae for rice wine fermentation.

Background: Rice wine (RW) fermentation is limited by its long fermentation time, weak taste and unpleasant flavors such as oil and odor. In this study, a novel ultrasound technology of Saccharomyces cerevisiae was used with the aim of improving fermentation efficiency and volatile flavor quality of RW.

Results: The results showed that fixed-frequency ultrasonic treatment (28 kHz, 45 W L, 20 min) of S.

Downregulation of mesenteric afferent sensitivity following long-term systemic treatment of vincristine in mice.

Aims: Gastrointestinal paresthesia and dysmotility are common side effects of vincristine (VCR) chemotherapy, which have become one of the factors for dose reduction, therapy delay or discontinuation. However, the mechanism is not entirely clear, whether it is related to autonomic nerves injury remains unknown. Therefore, we aimed to study whether VCR-induced gastrointestinal toxicity is related to changes in mesenteric afferent activity.

Perioperative immunotherapy: the main clinical treatment for resectable non-small cell lung cancer.

Phase 3 clinical trials of perioperative immunotherapy for resectable non-small cell lung cancer (NSCLC): In recent years, immunotherapy for NSCLC is not only limited to advanced disease, but also has shown gratifying efficacy for early resectable NSCLC. With the publication of the results of several phase 3 clinical trials, perioperative immunotherapy will become one of the main treatment modalities for resectable NSCLC.

Large language models in bioinformatics: applications and perspectives.

Large language models (LLMs) are a class of artificial intelligence models based on deep learning, which have great performance in various tasks, especially in natural language processing (NLP). Large language models typically consist of artificial neural networks with numerous parameters, trained on large amounts of unlabeled input using self-supervised or semi-supervised learning. However, their potential for solving bioinformatics problems may even exceed their proficiency in modeling human language.

Searching across-cohort relatives in 54,092 GWAS samples via encrypted genotype regression.

Explicitly sharing individual level data in genomics studies has many merits comparing to sharing summary statistics, including more strict QCs, common statistical analyses, relative identification and improved statistical power in GWAS, but it is hampered by privacy or ethical constraints. In this study, we developed encG-reg, a regression approach that can detect relatives of various degrees based on encrypted genomic data, which is immune of ethical constraints. The encryption properties of encG-reg are based on the random matrix theory by masking the original genotypic matrix without sacrificing precision of individual-level genotype data.

Prognostic significance and immunological role of HPRT1 in human cancers.

Hypoxanthine phosphoribosyl transferase 1 (HPRT1), once considered a housekeeping gene, has been identified as playing an important role in several tumors. Its role in pan-cancer, however, has not been systematically studied. This study evaluates the relationship between HPRT1 and clinical parameters, survival prognosis, and tumor immunity based on multi omics data from the Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) databases.

Exploring the cultivation of psychological resilience in medical students from the perspective of doctor-patient relationship.

The current medical model has transitioned from the original biomedical treatment model to a bio-psycho-social model, where patients now have higher demands for service awareness. Consequently, doctor-patient relationships have become a crucial aspect of the contemporary medical process. Currently, psychological resilience among medical students in China tends to be at a moderately lower level.

How loneliness linked to anxiety and depression: a network analysis based on Chinese university students.

Background: There is conclusive evidence of a multifaceted and bidirectional relationship between loneliness and depression and anxiety. Nonetheless, more extensive research is needed to examine their relationships at a more granular level. This study employed a network analysis approach to identify the pathological mechanisms underpinning those relationships and to identify important bridge nodes as potential targets for intervention.

Genome-wide association study exploring the genetic architecture of eggshell speckles in laying hens.

Background: Eggshell speckle phenotype is an important trait in poultry production because they affect eggshell quality. However, the genetic architecture of speckled eggshells remains unclear. In this study, we determined the heritability of eggshell speckles and conducted a genome-wide association study (GWAS) on purebred Rhode Island Red (RIR) hens at 28 weeks to detect potential genomic loci and candidate genes associated with eggshell speckles.