Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Genetic mutations that yield defective cystic fibrosis transmembrane regulator () protein cause cystic fibrosis, a life-limiting autosomal recessive Mendelian disorder. A protective role of loss-of-function mutations in inflammatory bowel disease (IBD) has been suggested, but its evidence has been inconclusive and contradictory. Here, leveraging the largest IBD exome sequencing dataset to date, comprising 38,558 cases and 66,945 controls in the discovery stage, and 35,797 cases and 179,942 controls in the replication stage, we established a protective role of CF-risk variants against IBD based on evidence from the association test of delF508 (p-value=8.

Scatter correction for contrast-enhanced digital breast tomosynthesis with a dual-layer detector.

Purpose: Contrast-enhanced digital breast tomosynthesis (CEDBT) highlights breast tumors with neo-angiogenesis. A recently proposed CEDBT system with a dual-layer (DL) flat-panel detector enables simultaneous acquisition of high-energy (HE) and low-energy (LE) projection images with a single exposure, which reduces acquisition time and eliminates motion artifacts. However, x-ray scatter degrades image quality and lesion detectability.

Refining antipsychotic treatment strategies in schizophrenia: discovery of genetic biomarkers for enhanced drug response prediction.

Schizophrenia (SCZ) is a severe mental disorder affecting around 1% of individuals worldwide. The variability in response to antipsychotic drugs (APDs) among SCZ patients presents a significant challenge for clinicians in determining the most effective medication. In this study, we investigated the biological markers and established a predictive model for APD response based on a large-scale genome-wide association study using 3269 Chinese schizophrenia patients.

Banxia xiexin decoction prevents the development of gastric cancer.

Background: In China banxia xiexin decoction (BXD) has been used in treating gastric cancer (GC) for thousands of years and BXD has a good role in reversing GC histopathology, but its chemical composition and action mechanism are still unknown.

Aim: To investigate the mechanism of action of BXD against GC based on transcriptomics, network pharmacology, and experiments.

Methods: The transplanted tumor model was prepared, and the nude mouse were pathologically examined after administration, and hematoxylin-eosin staining was performed.

PET image reconstruction using weighted nuclear norm maximization and deep learning prior.

The ill-posed Positron emission tomography (PET) reconstruction problem usually results in limited resolution and significant noise. Recently, deep neural networks have been incorporated into PET iterative reconstruction framework to improve the image quality. In this paper, we propose a new neural network-based iterative reconstruction method by using weighted nuclear norm (WNN) maximization, which aims to recover the image details in the reconstruction process.

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.

We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4× mean depth) and deep whole exome (30-40× mean depth) data in a single sequencing run. This technology is cost-effective, empowers most genomic discoveries possible with deep whole genome sequencing, and provides an unbiased method to capture the diversity of common SNP variation across the globe. To evaluate this new technology at scale, we applied BGE to sequence >53,000 samples from the Populations Underrepresented in Mental Illness Associations Studies (PUMAS) Project, which included participants across African, African American, and Latin American populations.

Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.

While respiratory diseases such as COPD and asthma share many risk factors, most studies investigate them in insolation and in predominantly European ancestry populations. Here, we conducted the most powerful multi-trait and -ancestry genetic analysis of respiratory diseases and auxiliary traits to date. Our approach improves the power of genetic discovery across traits and ancestries, identifying 44 novel loci associated with lung function in individuals of East Asian ancestry.

Ultralow voltage-driven efficient and stable perovskite light-emitting diodes.

The poor operational stability of perovskite light-emitting diodes (PeLEDs) remains a major obstacle to their commercial application. Achieving high brightness and quantum efficiency at low driving voltages, thus effectively reducing heat accumulation, is key to enhancing the operational lifetime of PeLEDs. Here, we present a breakthrough, attaining a record-low driving voltage while maintaining high brightness and efficiency.

Effects of various exercise interventions on motor function in cerebral palsy patients: a systematic review and network meta-analysis.

Purpose: A network meta-analysis was utilized to compare the rehabilitative effectiveness of different exercise interventions on motor function in cerebral palsy(CP) patients.

Methods: Computer searches were conducted across 9 databases, including PubMed, Cochrane Library, Scopus, Web of Science, Embase, and others, to identify randomized controlled trials focusing on different exercise interventions aimed at enhancing motor function in CP patients. The search spanned from the inception of the databases to January 31, 2024.

Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases.

Genome-wide association studies (GWAS) of human complex traits or diseases often implicate genetic loci that span hundreds or thousands of genetic variants, many of which have similar statistical significance. While statistical fine-mapping in individuals of European ancestry has made important discoveries, cross-population fine-mapping has the potential to improve power and resolution by capitalizing on the genomic diversity across ancestries. Here we present SuSiEx, an accurate and computationally efficient method for cross-population fine-mapping.

study of the impact of system design parameters on microcalcification detection in wide-angle digital breast tomosynthesis.

Purpose: Accurate detection of microcalcifications ( ) is crucial for the early detection of breast cancer. Some clinical studies have indicated that digital breast tomosynthesis (DBT) systems with a wide angular range have inferior detectability compared with those with a narrow angular range. This study aims to (1) provide guidance for optimizing wide-angle (WA) DBT for improving detectability and (2) prioritize key optimization factors.

Real-time dynamic polygenic prediction for streaming data.

Polygenic risk scores (PRSs) are promising tools for advancing precision medicine. However, existing PRS construction methods rely on static summary statistics derived from genome-wide association studies (GWASs), which are often updated at lengthy intervals. As genetic data and health outcomes are continuously being generated at an ever-increasing pace, the current PRS training and deployment paradigm is suboptimal in maximizing the prediction accuracy of PRSs for incoming patients in healthcare settings.

Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia.

Background: Response to antipsychotic drugs (APD) varies greatly among individuals and is affected by genetic factors. This study aims to demonstrate genome-wide associations between copy number variants (CNVs) and response to APD in patients with schizophrenia.

Methods: A total of 3030 patients of Han Chinese ethnicity randomly received APD (aripiprazole, olanzapine, quetiapine, risperidone, ziprasidone, haloperidol and perphenazine) treatment for six weeks.

Physiotherapeutic Scoliosis-Specific Exercise for the Treatment of Adolescent Idiopathic Scoliosis: A Systematic Review and Network Meta-analysis.

Objective: The aim of the study is to compare the rehabilitative efficacy of different physiotherapy scoliosis-specific exercises for adolescent idiopathic scoliosis using a network meta-analysis.

Design: PubMed, Cochrane Library, Web of Science, Embase, VIP Database for Chinese Technical Periodicals, China National Knowledge Infrastructure, Chinese Biomedical Literature Database, and Wan Fang Data were searched until October 2023. Meta-analysis and network meta-analysis were conducted using RevMan 5.

A cross ancestry genetic study of psychiatric disorders from India.

Genome-wide association studies across diverse populations may help validate and confirm genetic contributions to risk of disease. We estimated the extent of population stratification as well as the predictive accuracy of polygenic scores (PGS) derived from European samples to a data set from India. We analysed 2685 samples from two data sets, a population neurodevelopmental study (cVEDA) and a hospital-based sample of bipolar affective disorder (BD) and obsessive-compulsive disorder (OCD).

Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.

Genomic scientists have long been promised cheaper DNA sequencing, but deep whole genomes are still costly, especially when considered for large cohorts in population-level studies. More affordable options include microarrays + imputation, whole exome sequencing (WES), or low-pass whole genome sequencing (WGS) + imputation. WES + array + imputation has recently been shown to yield 99% of association signals detected by WGS.

Determining the Mechanism of Banxia Xiexin Decoction for Gastric Cancer Treatment through Network Analysis and Experimental Validation.

Gastric cancer (GC) is a widespread malignancy. Banxia Xiexin decoction (BXD) has been used for GC treatment, but the specific mechanisms underlying its therapeutic effects remain controversial. This study used a comprehensive approach to network pharmacology combined with experimental validation to elucidate the mechanism of BXD's anti-GC effects.

Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.

Nearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS). However, the impact of rare coding variants on depression remains poorly understood. Here, we present whole-exome sequencing analyses of depression with seven different definitions based on survey, questionnaire, and electronic health records in 320,356 UK Biobank participants.