GENCODE 2025: reference gene annotation for human and mouse.

GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables us to identify large numbers of missing transcripts and to substantially improve existing models, and our long non-coding RNA catalogs have undergone a dramatic expansion and reconfiguration as a result.

A realist evaluation of the implementation of a national tobacco control program and policy in India.

There is a growing interest in studying and unpacking implementation of policies and programmes as it provides an opportunity to reduce the policy translation time lag taken for research findings to translate to policies and get implemented and understand why policies may fail. Realist evaluation is a theory-driven approach that embraces complexity and helps to identify the mechanisms generating the observed policy outcomes in given context. We aimed to study facilitators and barriers while implementing the Cigarettes and Other Tobacco Products Act, 2003 (COTPA) a comprehensive national tobacco control policy, and the National Tobacco Control Programme (NTCP), 2008 using realist evaluation.

Implementation Strategies for Maternal Near-Miss Case Reviews in LICs and LMICs: A scoping review protocol.

Background: Maternal mortality remains a persistent public health concern despite significant strides in reduction over the past few decades, with a global maternal mortality ratio (MMR) of 223 deaths per 100,000 live births in 2020, indicating a 34.3% decline over 20 years, with Low income countries (LICs) and Lower Middle-Income Countries (LMICs) bearing the major burden. Effective implementation of facility-based near-miss case reviews (NMCR), endorsed by the World Health Organization (WHO), faces challenges hindering progress, making exploring implementation strategies through a scoping review essential.

Health technology assessment implementation in WHO South-East Asia Region: a realist review protocol.

Background: A robust Health Technology Assessment (HTA) framework is crucial to address the rising burden of healthcare costs and to inform decision-making to promote high-quality health systems. This research aims to describe the HTA methods and mechanisms for the successful implementation of HTA in the WHO South-East Asia region, and contextualize the synthesized evidence relevant to Indian settings.

Methods: Realist review involves developing a program theory by conducting a systematic search strategy, screening, study selection, data extraction, and data synthesis.

A comprehensive analysis of mRNA expression profiles of Esophageal Squamous Cell Carcinoma reveals downregulation of Desmoglein 1 and crucial genomic targets.

Aim: Esophageal Squamous Cell Carcinoma (ESCC) is a histological subtype of esophageal cancer that begins in the squamous cells in the esophagus. In only 19% of the ESCC-diagnosed patients, a five-year survival rate has been seen. This necessitates the identification of high-confidence biomarkers for early diagnosis, prognosis, and potential therapeutic targets for the mitigation of ESCC.

The Proinflammatory Role of ANGPTL8 R59W Variant in Modulating Inflammation through NF-κB Signaling Pathway under TNFα Stimulation.

Background: Angiopoietin-like protein 8 (ANGPTL8) is known to regulate lipid metabolism and inflammation. It interacts with ANGPTL3 and ANGPTL4 to regulate lipoprotein lipase (LPL) activity and with IKK to modulate NF-κB activity. Further, a single nucleotide polymorphism (SNP) leading to the ANGPTL8 R59W variant associates with reduced low-density lipoprotein/high-density lipoprotein (LDL/HDL) and increased fasting blood glucose (FBG) in Hispanic and Arab individuals, respectively.

Shifting the gaze on implementation: examining the association between the implementation of tobacco control laws and prevalence of tobacco using data from a nationally representative survey.

Background: Tobacco use and the associated health burden is a cause of concern in India and globally. Despite several tobacco control policies in place, their sub-optimal and variable implementation across Indian states has remained a concern. Studies evaluating the real-world implementation of policies such as Cigarettes and Other Tobacco Products (COTPA) or National Tobacco Control Program (NTCP) in India and its association with reductions in tobacco use are limited.

Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.

Type 1 diabetes (T1D) is characterized by the progressive destruction of pancreatic β-cells, leading to insulin deficiency and lifelong dependency on exogenous insulin. Higher estimates of heritability rates in monozygotic twins, followed by dizygotic twins and sib-pairs, indicate the role of genetics in the pathogenesis of T1D. The incidence and prevalence of T1D are alarmingly high in Kuwait.

Global comparative transcriptomes uncover novel and population-specific gene expression in esophageal squamous cell carcinoma.

Background: Esophageal squamous cell carcinoma (ESCC) has a poor prognosis and is one of the deadliest gastrointestinal malignancies. Despite numerous transcriptomics studies to understand its molecular basis, the impact of population-specific differences on this disease remains unexplored.

Aims: This study aimed to investigate the population-specific differences in gene expression patterns among ESCC samples obtained from six distinct global populations, identify differentially expressed genes (DEGs) and their associated pathways, and identify potential biomarkers for ESCC diagnosis and prognosis.

Cognitive Load Estimation in VR Flight Simulator.

This paper discusses the design and development of a low-cost virtual reality (VR) based flight simulator with cognitive load estimation feature using ocular and EEG signals. Focus is on exploring methods to evaluate pilot's interactions with aircraft by means of quantifying pilot's perceived cognitive load under different task scenarios. Realistic target tracking and context of the battlefield is designed in VR.

Coproducing tobacco control knowledge: Using virtual platforms to strengthen implementation in India.

Tobacco control is complex and multidimensional. In India, 266.8 million adults use tobacco in some form, with local contextual factors shaping its consumption, production, and trade.

How does Indian news media report smokeless tobacco control? A content analysis of the gutka ban enforcement.

Smokeless tobacco (SLT) products like gutka and paan masala are a growing public health crisis in India. Despite enacting a ban-the highest form of regulation-little is known about implementation progress. The purpose of this study was to look at how enforcement of gutka ban is covered in Indian news media and if media is a reliable source of data.

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.

Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches.

How do tobacco control policies work in low-income and middle-income countries? A realist synthesis.

Background: The burden of tobacco use is disproportionately high in low- and middle-income countries (LMICs). There is scarce theorisation on what works with respect to implementation of tobacco control policies in these settings. Given the complex nature of tobacco control policy implementation, diversity in outcomes of widely implemented policies and the defining role of the context, we conducted a realist synthesis to examine tobacco control policy implementation in LMICs.

rs1997623 variant and adult metabolic syndrome-Assessing the association in three ethnic cohorts of Arabs, South Asians and South East Asians.

Animal and cell model studies have implicated in the pathophysiology of metabolic disorders. Our previous studies demonstrated a potential association of rs1997623 C/A variant with pediatric metabolic syndrome (MetS) in Arab children. In the present study, we evaluate whether the variant associates with MetS Arab adults as well.

Distribution of Alleles and Haplotypes in Qatari: Recommendation for Establishing Pharmacogenomic Markers Screening for Drug Hypersensitivity.

Human leukocyte antigen (HLA) proteins are present at the cellular surface of antigen-presenting cells and play a crucial role in the adaptive immune response. Class I genes, specifically certain alleles, are associated with adverse drug reactions (ADRs) and are used as pharmacogenetic markers. Although ADRs are a common causes of hospitalization and mortality, the data on the prevalence of pharmacogenetics markers in Arab countries are scarce.

rs4846914 SNP Is Associated with Obesity, Atherogenic Lipid Traits, and ANGPTL3 Plasma Level.

N-Acetylgalactosaminyltransferase 2 (GALNT2) is associated with serum lipid levels, insulin resistance, and adipogenesis. Additionally, angiopoietin-like (ANGPTL) proteins have emerged as regulators of lipoprotein lipase and lipid metabolism. In this study, we evaluated the association between GALNT2 rs4846914 variant, known for its association with lipid levels in European cohorts, with plasma levels of ANGPTL proteins, apolipoproteins, lipids, and obesity traits in individuals of Arab ethnicity.