Congenital glaucoma, a complex and diverse condition, presents considerable difficulties in its identification and categorization. This research used Next Generation Sequencing (NGS) whole-exome data to create a categorization framework using machine...
Current opinion in genetics & development
Jun 20, 2025
Lineage-specific genetic variants play a key role in evolutionary divergence, particularly through changes in cis-regulatory elements that fine-tune gene expression. Massively parallel reporter assays (MPRAs) provide a powerful approach to characteri...
BACKGROUND: Next-generation sequencing (NGS) has become a cornerstone of treatment for lung cancer and is recommended in current treatment guidelines for patients with advanced or metastatic disease.
R-loops are three-stranded RNA and DNA hybrid structures that often occur in the genome and play important roles in a variety of cellular processes from bacteria to mammals. Sequencing methods profiling R-loops genome-wide have revealed that they can...
Journal of bioscience and bioengineering
Jun 4, 2025
Phage display selection has been used for directed evolution of antibody fragments. However, variants with binding affinity cannot be always identified due to undesirable enrichment of target-unrelated variants in the biopanning process. Here, our go...
PURPOSE OF REVIEW: This review explores the transformative potential of artificial intelligence (AI) and next-generation sequencing (NGS) in allergy diagnostics and treatment. It focuses on leveraging these technologies to enhance precision in biomar...
Molecular medicine (Cambridge, Mass.)
May 30, 2025
BACKGROUND: Cervical cancer screening programs are increasingly relying on sensitive molecular approaches as primary tests to detect high-risk human papillomaviruses (hrHPV), the causative agents of cervix cancer. Although hrHPV infection is a pre-re...
Fragmentomics features of cell-free DNA represent promising non-invasive biomarkers for cancer diagnosis. A lack of systematic evaluation of biases in feature quantification hinders the adoption of such applications. We compare features derived from ...
Improvements in sequencing technology make the development of new tools for detection of structural variance more and more common. However, since the tools available for the long-read Oxford Nanopore sequencing are limited, and the selection of the o...
Applied and environmental microbiology
Apr 30, 2025
Recent advances in next-generation sequencing have opened up new possibilities for applying the human microbiome in various fields, including forensics. Researchers have capitalized on the site-specific microbial communities found in different parts ...
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