Unlabelled: Accurate identification of significant aberrations in cancers (AISAIC) is a systematic effort to discover potential cancer-driving genes such as oncogenes and tumor suppressors. Two major confounding factors against this goal are the normal cell contamination and random background aberrations in tumor samples. We describe a Java AISAIC package that provides comprehensive analytic functions and graphic user interface for integrating two statistically principled in silico approaches to address the aforementioned challenges in DNA copy number analyses. In addition, the package provides a command-line interface for users with scripting and programming needs to incorporate or extend AISAIC to their customized analysis pipelines. This open-source multiplatform software offers several attractive features: (i) it implements a user friendly complete pipeline from processing raw data to reporting analytic results; (ii) it detects deletion types directly from copy number signals using a Bayes hypothesis test; (iii) it estimates the fraction of normal contamination for each sample; (iv) it produces unbiased null distribution of random background alterations by iterative aberration-exclusive permutations; and (v) it identifies significant consensus regions and the percentage of homozygous/hemizygous deletions across multiple samples. AISAIC also provides users with a parallel computing option to leverage ubiquitous multicore machines.
Availability And Implementation: AISAIC is available as a Java application, with a user's guide and source code, at https://code.google.com/p/aisaic/.
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http://dx.doi.org/10.1093/bioinformatics/btt693 | DOI Listing |
Semin Ophthalmol
January 2025
Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.
Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.
J Clin Microbiol
January 2025
Department of Mycobacteriology, Leprosy Research Center, National Institute of Infectious Diseases, Higashimurayama, Tokyo, Japan.
, a slow-growing nontuberculous mycobacterium, causes Buruli ulcer, a neglected tropical disease. Distinguishing from related species, including , poses challenges with respect to making accurate identifications. In this study, we developed a rapid and simple identification method based on mycobacterial lipid profiles and used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) to analyze the lipid profiles of ( = 35) and ( = 19) isolates.
View Article and Find Full Text PDFBrain metastases (BrMets), common for advanced-stage breast cancer patients, are associated with poor median survival and accompanied by severe neurologic decline. Halting the progression of breast cancer brain metastases (BCBMs) may require modulation of the tumor microenvironment (TME), yet little is known about the impact of the primary breast TME on brain tropism, or how, once there, metastatic breast cancer cells coexist with brain-resident cells (e.g.
View Article and Find Full Text PDFiScience
January 2025
Key Laboratory of Resources Biology and Biotechnology in Western China, Ministry of Education, Provincial Key Laboratory of Biotechnology of Shaanxi Province, the College of Life Sciences, Northwest University, Xi'an 710069, China.
Bacteriophages (phages) are increasingly viewed as a promising alternative for the treatment of antibiotic-resistant bacterial infections. However, the diversity of host ranges complicates the identification of target phages. Existing computational tools often fail to accurately identify phages across different bacterial species.
View Article and Find Full Text PDFJOR Spine
March 2025
Spine Labs St George and Sutherland Clinical School, University of New South Wales Kogarah New South Wales Australia.
Background: Pain of a chronic nature remains the foremost concern in tertiary spine clinics, yet its elusive nature and quantification challenges persist. Despite extensive research and education on low back pain (LBP), the realm of diagnostic practices lacks a unified approach. Clinically, LBP exhibits a multifaceted character, encompassing conventional assessments of severity and disability, alongside nuanced attributes like pain characterization, duration, and patient expectations.
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