Journal of chemical information and modeling
May 12, 2025
While predicting structure-function relationships from sequence data is fundamental in biophysical chemistry, identifying prospective single-point and collective mutation sites in proteins can help us stay ahead in understanding their potential effec...
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERα) for proliferation, but little is known about its transcriptional regulation in these tumors.
Molecular assays are critical tools for the diagnosis of infectious diseases. These assays have been extremely valuable during the COVID pandemic, used to guide both patient management and infection control strategies. Sustained transmission and unhi...
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the gene, typically diagnosed during early childhood and characterized by significant phenotypic heterogeneity. Despite advancements in next-generation sequencin...
BACKGROUND: Microsatellite instability (MSI) has emerged as a predictive biomarker for immunotherapy response in various cancers, but its role in non-small cell lung cancer (NSCLC) is not fully understood.
Zhongguo fei ai za zhi = Chinese journal of lung cancer
Feb 20, 2025
BACKGROUND: Epidermal growth factor receptor (EGFR) sensitive mutation is one of the effective targets of targeted therapy for non-small cell lung cancer (NSCLC). However, due to the difficulty of obtaining some primary tissues and the economic facto...
In infected individuals, viruses are present as a population consisting of dominant and minor variant genomes. Most databases contain information on the dominant genome sequence. Since the emergence of SARS-CoV-2 in late 2019, variants have been sele...
Biomedical and environmental sciences : BES
Jan 20, 2025
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.
Genomics, proteomics & bioinformatics
Jan 15, 2025
The accurate identification of catalytic residues contributes to our understanding of enzyme functions in biological processes and pathways. The increasing number of protein sequences necessitates computational tools for the automated prediction of c...
Investigative ophthalmology & visual science
Jan 2, 2025
PURPOSE: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretig...
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