Genetics

Silent Signals: The Expanding Role of Cell-Free DNA in Women's Health, Pregnancy, and Reproductive Medicine.

Cell-free DNA (cfDNA) is an emerging biomarker detectable in various bodily fluids, with promising implications across a wide range of clinical domains. Its minimally invasive nature, short half-life, and ability to reflect tissue-specific genetic and epigenetic alterations position cfDNA as a key tool in women's health diagnostics. This narrative review aims to explore the biological characterist...

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS-mitogen-activated protein kinase (RAS-MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to identify predictive clinical "red flags" using machine...

Structural mining and engineering of metagenome-derived Cas12a orthologs expands the CRISPR genome editing and multiplex diagnostics toolkit.

CRISPR-Cas12a is a compact, RNA-guided nuclease widely deployed in genome editing and molecular diagnostics, yet its broader utility is limited by sub...

A metabolic-immune subtype of breast cancer defined by G6PD and SHMT2: From single‑cell dissection to dual-targeted therapy.

Breast cancer heterogeneity limits the precision of current prognostic and therapeutic strategies, underscoring the need for molecular frameworks that...

GS-Impute: A neural network framework for accurate imputation of low-density markers in across-population genomic selection.

Genomic selection (GS) holds great promise for accelerating breeding progress in plants, and the advancement of across-population GS is essential to r...

Endothelial SMAD1-MCAM axis facilitates sunitinib resistance and progression of clear cell renal cell carcinoma via LAMB1-ITGB1 signaling.

Clear cell renal cell carcinoma (ccRCC) is characterized by high metastatic potential and frequent resistance to conventional therapies, highlighting ...

IDH enzyme inhibition in cancer therapy: mechanisms, mutational insights, and effects of IDH inhibitors in glioma, acute myeloid leukemia and chondrosarcoma.

Isocitrate dehydrogenase (IDH) enzymes have recently emerged as a highly promising target for therapeutic intervention in cancer treatment. Mutations ...

Population-level structural variant characterization using pangenome graphs.

Population-level structural variant (SV) profiling is crucial in the era of pangenomes. However, identifying SVs from genome assemblies and pangenome ...

Leveraging proteomics and machine learning for mechanism and biomarker discovery on glioma progression and transformation: from LGG to GBM.

BACKGROUND: Glioma was the most common malignant tumor of the central nervous system in adults. Low-grade gliomas (LGGs) have a potential of grade pro...

Deep learning with limited data: a transfer learning approach for transcriptomic survival prediction.

BACKGROUND: Deep neural networks (DNNs) are promising for analyzing high-dimensional transcriptomic data in cancer research but are limited by data sc...

A targeted proteomics assay for the preoperative diagnosis of thyroid nodules.

Accurate preoperative diagnosis of thyroid nodules via fine-needle aspiration (FNA) biopsy remains challenging, particularly in cases with indetermina...

Computational redesign of a thermostable T7 RNA polymerase.

T7 RNA polymerase (T7 RNAP) is a foundational enzyme for biotechnology, but its utility for many potential applications is limited by low thermal stab...

Staphylococcus aureus resistance to non-β-lactam antibiotics: global genomic epidemiology and machine learning feasibility assessment.

Staphylococcus aureus is increasingly resistant to β-lactam antibiotics, making non-β-lactam cell-wall-targeting drugs crucial alternatives. Growing r...

Nanopore direct RNA sequencing for RNA modification analysis: workflow assessment and computational tool benchmarking.

Recent advancements in sequencing technologies have transformed the characterization of genomic and transcriptomic complexity. In this review, we pres...

AGPAT3 reshapes tumor cell vulnerability to IFNγ-mediated ferroptosis and enhances immunotherapy efficacy through lipid remodeling.

BACKGROUND: Ferroptosis plays a critical role in immune regulation and tumor microenvironment remodeling. However, its therapeutic potential in enhanc...

The essential role of methylation in maize (Zea mays) defense against the seed-colonizing fungus Aspergillus flavus.

UNLABELLED: The interaction between maize (Zea mays) and Aspergillus species poses a huge threat to global food safety due to the production of aflato...

OSCAR: A Modular Open-Source Robotic Platform for Biological Laboratories.

Biological research often involves complex, repetitive, and high-throughput manipulations that are well-suited to automation. However, current robotic...

SMC4/SMAD3/NF-κB axis drives cervical cancer progression and radioresistance via DNA damage repair and immune modulation.

OBJECTIVE: Cervical cancer remains a significant global health burden, with the molecular determinants of its progression and therapeutic resistance n...

Resveratrol ameliorates sepsis-induced immune dysfunction by targeting GADD45A to maintain hematopoietic stem cell homeostasis: A predictive study integrating ensemble machine learning, single-cell transcriptomics, and molecular dynamics simulation.

OBJECTIVE: To investigate the potential pharmacological mechanisms of resveratrol (RES) in ameliorating sepsis-associated immune dysfunction via the G...

Revolutionizing hepatic fibrosis staging: A machine learning approach combining clinical, biochemical, and microbiome insights.

Non-alcoholic Steatohepatitis (NASH) is a common disease that not only affects adults but has also been seen to affect all ages. This includes young a...