Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Despite increasing sequencing capacity, genetic disease investigation still frequently results in the identification of loci containing multiple candidate disease genes that need to be tested for involvement in the disease. This process can be expedited by prioritizing the candidates prior to testing. Over the last decade, a large number of computational methods and tools have been developed to assist the clinical geneticist in prioritizing candidate disease genes. In this chapter, we give an overview of computational tools that can be used for this purpose, all of which are freely available over the web.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/978-1-61779-176-5_12 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sustainable Antiparasitic Agents from an Agro-Industrial Waste: Mitochondria-Targeting Cashew Nutshell Liquid-Derived Phosphonium and Ammonium Salts.
J Med Chem
September 2025
Department of Pharmacy and Biotechnology, Alma Mater Studiorum─University of Bologna, Via Belmeloro 6, Bologna 40126, Italy.
Innovative, sustainable therapies are urgently needed for neglected vector-borne parasitic diseases. In this study, we leveraged cashew nutshell liquid (CNSL), an agro-industrial byproduct, to develop biobased phosphonium and ammonium salts (-) targeting parasite mitochondria. By combining CNSL-derived C8 alkyl chains with lipophilic cations, we synthesized novel compounds exhibiting highly potent and activity against and spp.
View Article and Find Full Text PDFGenomic and stress resistance characterization of GX17, a potential probiotic for animal feed applications.
Microbiol Spectr
September 2025
Key Laboratory of Veterinary Biotechnology, Guangxi Veterinary Research Institute, Nanning, Guangxi, China.
Unlabelled: Lactobacilli, recognized as beneficial bacteria within the human body, are celebrated for their multifaceted probiotic functions, including the regulation of intestinal flora, enhancement of body immunity, and promotion of nutrient absorption. This study comprehensively analyzed the genotypic and phenotypic characteristics of () strains isolated from the intestines of healthy chicks and assessed their potential as probiotics. The assembled genome consists of 29,521,986 bp, and a total of 1,771 coding sequences (CDSs) were predicted.
View Article and Find Full Text PDFIdentifying Poor Responders to STN DBS in Parkinson Disease: The Role of Rapid Disease Progression in the First Year in Optimal Responders to Levodopa.
Eur J Neurol
September 2025
Department of Neuroscience 'Rita Levi Montalcini', University of Torino, Torino, Italy.
Background: The factors contributing to a poor response to subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) are not yet fully understood. Accordingly, predicting the outcome might be challenging particularly in those who display an optimal response to the Levodopa challenge test.
Objective: To determine which factors may contribute to poor outcome of STN-DBS in PD.
Prognostic Value of C-Reactive Protein/Platelet Ratio as a Biomarker Prior to Allogeneic Hematopoietic Stem Cell Transplantation in Malignant Lymphoma.
Hematol Oncol
September 2025
Division of Hematology, Department of Medicine, Jichi Medical University, Shimotsuke, Japan.
Previous studies have shown that the pre-transplant C-reactive protein (CRP)/platelet ratio (CP ratio) is a predictor of survival. The aim of this multicenter retrospective study was to evaluate the clinical significance of CP ratio in patients with malignant lymphoma (ML) who underwent allogeneic hematopoietic stem cell transplantation (alloHCT). The cohort included patients with ML who underwent first alloHCT from 2007 to 2021.
View Article and Find Full Text PDFThe Role of Immediate Arthroplasty in Elderly Tibial Plateau Fractures.
Orthop Rev (Pavia)
September 2025
Introduction/background: Complex articular fractures around the knee in the elderly patient present an ongoing challenge regarding optimal treatment. While extensive research has evaluated immediate arthroplasty following fracture of the proximal femur, distal femur, proximal humerus, and elbow, relatively little focus has been given to immediate arthroplasty following complex tibia plateau fractures.
Methods: As seen with many other fractures, arthroplasty can shorten recovery and hospital stay and allow early weight-bearing with improved mobility while minimizing complications and possible future conversion arthroplasty cost.