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<h4>Backgruound</h4>Type 2 diabetes mellitus (T2DM) is a complex, multifactorial disease with a significant global burden. Although genome-wide association studies (GWAS) have identified many T2DM-associated variants, most lie in non-coding regions, making it difficult to interpret …
Read PDFIdentifying drivers of cancer progression to guide treatment selection is hindered by our limited understanding of tumor heterogeneity and its impact on tumor evolution. Here, we delineate the phenotypic variability across ~300,000 cells collected from …
Read PDF<b>Objective:</b> Coronary atherosclerosis (CAD) is characterized by arterial intima lipid deposition, chronic inflammation, and fibrous tissue proliferation, leading to arterial wall thickening and lumen narrowing. As the primary cause of coronary heart disease and acute …
Read PDFPituitary neuroendocrine tumors (PitNETs) are a heterogeneous group of intracranial neoplasms that vary in hormonal activity, histological features, and clinical behavior. The rise of high-throughput sequencing and molecular profiling technologies has enabled multiomic approaches-including genomics, …
Read PDFDNA methylation plays a crucial role in development and disease. Bisulfite-free methods such as enzymatic methyl sequencing (EM-seq) offer gentle approaches for whole-genome analysis, but they typically depend on PCR-based library amplification, which distorts coverage …
Read PDFFormalin preservation of museum specimens has long been considered a barrier to molecular research due to extensive crosslinking and chemical modification. However, recent optimisation of hot alkaline lysis and proteinase K digestion DNA extraction methods …
Read PDFImmune checkpoint inhibitors (ICIs) have transformed oncology, yet durable benefit remains confined to a minority of patients, revealing the limitations of single biomarkers such as PD-L1 expression, tumor mutational burden, and microsatellite instability. Multi-omics profiling, …
Read PDFEpigenetic dysregulation has been increasingly understood to be a key factor in the development of myeloid malignancies, often acting alongside genetic alterations to disrupt normal hematopoiesis. The inherent reversibility of epigenetic changes has provided an …
Read PDF<h4>Motivation</h4>statistics from genome-wide association studies (GWAS) are widely used in fine-mapping and colocalization analyses to identify causal variants and their enrichment in functional contexts, such as affected cell types and genomic features. With the expansion …
Read PDFThe brain-gut axis represents a bidirectional communication network that integrates neural, hormonal, and immunological signaling between the central nervous system and the gastrointestinal tract. Adverse childhood experiences (ACEs) have increasingly been recognized for their profound …
Read PDFThe distribution of adipose depots in different body parts affects pig production value and human health, governed by complex epigenomic mechanisms. Limited studies on pig adipose depots have hindered the genetic improvement of fat-related economic …
Read PDFGlioblastoma (GBM) is the most common and aggressive primary brain tumor in adults. It is characterized by a high degree of heterogeneity, meaning that although these tumors may appear morphologically similar, they often exhibit distinct …
Read PDFThe integration of artificial intelligence (AI) into next-generation sequencing (NGS) has revolutionized genomics, offering unprecedented advancements in data analysis, accuracy, and scalability. This review explores the synergistic relationship between AI and NGS, highlighting its transformative …
Read PDF<h4>Summary</h4>The tidyCoverage R package provides a framework for intuitive investigation of collections of genomic tracks over genomic features, relying on the principle of tidy data manipulation. It defines two data structures, CoverageExperiment and AggregatedCoverage classes, …
Read PDFThe rapid evolution of single-cell sequencing technologies has significantly advanced our knowledge of cellular heterogeneity and the underlying molecular basis in healthy and diseased kidneys. While single-cell transcriptomic analysis excels in characterizing cell states in …
Read PDF<h4>Background</h4>Immigrant status and citizenship influence health and well-being, yet their associations with DNA methylation (DNAm)-based biomarkers of aging - key predictors of healthspan and lifespan, also known as epigenetic aging - remain underexplored.<h4>Methods</h4>Using a representative …
Read PDFDNA methylation at gene promoters is generally considered to be associated with transcriptional repression in vertebrates. However, lack of a clear picture of where promoter methylation is most important for transcriptional regulation has hindered our …
Read PDFArtificial intelligence (AI) excels at efficiently processing large volumes of data and extracting valuable insights. Deep Learning (DL), a subfield of AI, utilizes multi-layer neural network algorithms to analyze various types of data, mimicking the …
Read PDFBreast cancer is one of the most commonly diagnosed cancers worldwide and is a significant contributor to the global cancer burden. It is a clinically heterogeneous disease and reliable tools are needed to support treatment …
Read PDFCancer is a complex disease characterized by uncontrolled cell growth, which can invade surrounding tissues and spread to distant organs. Most of the conventional methods of diagnosis fails to identify the primary organ when cancer …
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