Detecting somatic single nucleotide variants (SNVs) is an essential component of cancer research with next generation sequencing data. This protocol describes how to run the SomaticSniper somatic SNV detector and then filter the output to eliminate most false positives. It also includes support protocols detailing the compilation of the software.
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http://dx.doi.org/10.1002/0471250953.bi1505s45 | DOI Listing |
Biomed Rep
March 2025
Circulating Biomarkers Laboratory, Pathology Department, Faculty of Medical Sciences, Rio de Janeiro State University, Rio de Janeiro 20550-170, Brazil.
Osteosarcoma (OS) is the most common malignant bone tumor affecting adolescents and young adults and it usually occurs in the long bones of the extremities. The detection of cancer-related genetic alterations has a growing effect in guiding diagnosis, prognosis and targeted therapies. However, little is known about the molecular aspects involved in the etiology and progression of OS, which limits options for targeted therapies.
View Article and Find Full Text PDFCancer Cell Int
January 2025
Department of Immuno-Oncology, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, 510080, China.
Background: Patients with lung adenocarcinoma (LUAD) receiving drug treatment often have an unpredictive response and there is a lack of effective methods to predict treatment outcome for patients. Dendritic cells (DCs) play a significant role in the tumor microenvironment and the DCs-related gene signature may be used to predict treatment outcome. Here, we screened for DC-related genes to construct a prognostic signature to predict prognosis and response to immunotherapy in LUAD patients.
View Article and Find Full Text PDFBMC Genomics
January 2025
College of Animal Science, Inner Mongolia Agricultural University, Hohhot, 010018, China.
Background: Identifying markers or genes crucial for growth traits in Zhongwei goats is pivotal for breeding. Pinpointing genetic factors linked to body size gain enhances breeding efficiency and economic value. In this study, we used the MGISEQ-T7 platform to re-sequence 240 Zhongwei goats (133 male; 107 female) belonging to 5 metrics of growth traits at different growth stages (40 days and 6 months, here in after referred to as 40d and 6 m), namely, Body Weight (BW), Body Height (BH), Body Length (BL), Chest Circumference (CC), Tube Circumference (TC) were examined.
View Article and Find Full Text PDFUrol Oncol
January 2025
Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Background: Clear cell renal cell carcinoma (ccRCC) is a prevalent and aggressive malignancy, with the von Hippel-Lindau (VHL) gene playing a critical role in its pathogenesis. However, the association between VHL gene variants and sporadic ccRCC risk remains unexplored in the Indian population. This study aimed to investigate the somatic and germline variants of the VHL gene in sporadic ccRCC patients from West Bengal, India, and their association with disease risk and clinicopathological parameters.
View Article and Find Full Text PDFJ Psychiatry Neurosci
January 2025
From the Department of Psychiatry, Yale University School of Medicine, New Haven, Conn., USA (Chen, Luo, Ide, C.-S. Li); Yale University, New Haven, Conn., USA (H.-T. Li); the Department of Biomedical Engineering, College of Chemistry and Life Science, Beijing University of Technology, Beijing, China (G. Li); the Beijing International Science and Technology Cooperation Base for Intelligent Physiological Measurement and Clinical Transformation, Beijing, China (G. Li); the Department of Neuroscience, Yale University School of Medicine, New Haven, Conn., USA (C.-S Li); the Interdepartment Neuroscience Program, Yale University, New Haven, Conn., USA (C.-S. Li); the Wu Tsai Institute, Yale University, New Haven, Conn., USA (C.-S. Li).
Background: Genetic variants may confer risk for depression by modulating brain structure and function; evidence has underscored the key role of the subgenual anterior cingulate cortex (sgACC) in depression. We sought to examine how the resting-state functional connectivity (rsFC) of the sgACC was associated with polygenic risk for depression in a subclinical population.
Methods: Following published protocols, we computed seed-based whole-brain sgACC rsFC and calculated polygenic risk scores (PRS) using data from healthy young adults from the Human Connectome Project.
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