Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
This cohort study analyzes sequence variants in the genome of SARS-CoV-2 using viral RNA samples taken from 7 women at a long-term care facility.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035651 | PMC |
| http://dx.doi.org/10.1001/jamanetworkopen.2021.7939 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Myoepithelial Carcinoma Ex-Pleomorphic Adenoma Exposing a RET Germline Mutation: A Rare Genetic Event.
Head Neck Pathol
September 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
Myoepithelial carcinoma (MECA) is a malignant neoplasm composed exclusively of myoepithelial cells and accounts for less than 1% of all salivary gland tumors. Its diagnosis is often challenging due to histologic overlaps with benign lesions and its variable morphologic presentation. Although molecular profiling has emerged as a valuable tool in salivary gland tumor classification, the genetic landscape of MECA remains incompletely defined.
View Article and Find Full Text PDFTMBquant: an explainable AI-powered caller advancing tumor mutation burden quantification across heterogeneous samples.
Brief Bioinform
August 2025
Department of Respiratory Medicine, The Second Affiliated Hospital of Xi'an Jiaotong University, No. 157, Xiwu Road, Xincheng District, Xi'an 710004, China.
Accurate tumor mutation burden (TMB) quantification is critical for immunotherapy stratification, yet remains challenging due to variability across sequencing platforms, tumor heterogeneity, and variant calling pipelines. Here, we introduce TMBquant, an explainable AI-powered caller designed to optimize TMB estimation through dynamic feature selection, ensemble learning, and automated strategy adaptation. Built upon the H2O AutoML framework, TMBquant integrates variant features, minimizes classification errors, and enhances both accuracy and stability across diverse datasets.
View Article and Find Full Text PDFCase Report: Pathogenic variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.
Front Genet
August 2025
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 years. In addition, some patients develop cardiomyopathy and liver dysfunction.
View Article and Find Full Text PDFNovel pathogenic splicing mutation in in a patient with Stickler syndrome verified by minigene splicing assay.
Front Genet
August 2025
Medical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Background: Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical features because of phenotypic variability. Thus, expanding the variant spectrum of this disease will aid in achieving a firm definitive diagnosis of STL.
View Article and Find Full Text PDFRaw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit mutations.
Front Oncol
August 2025
Department of Hematology, Institute of Molecular Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: To explore the potential association between long-term exposure to raw lacquer and the development of chronic myelomonocytic leukemia (CMML).
Methods: We analyzed the clinical and hematological characteristics of an elderly couple with CMML. Whole-exome sequencing (WES) was performed to identify relevant gene variants, with a focus on mutation status.