Unlabelled: The Pine Alignment and SNP Identification Pipeline (PineSAP) provides a high-throughput solution to single nucleotide polymorphism (SNP) prediction using multiple sequence alignments from re-sequencing data. This pipeline integrates a hybrid of customized scripting, existing utilities and machine learning in order to increase the speed and accuracy of SNP calls. The implementation of this pipeline results in significantly improved multiple sequence alignments and SNP identifications when compared with existing solutions. The use of machine learning in the SNP identifications extends the pipeline's application to any eukaryotic species where full genome sequence information is unavailable.
Availability: All code used for this pipeline is freely available at the Dendrome project website (http://dendrome.ucdavis.edu/adept2/resequencing.html)
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http://dx.doi.org/10.1093/bioinformatics/btp477 | DOI Listing |
Br J Anaesth
January 2025
Department of Clinical Chemistry, Erasmus Medical Center, Rotterdam, the Netherlands. Electronic address:
Background: Chronic postsurgical pain (CPSP) persists beyond the expected healing period after surgery, imposing a substantial burden on overall patient well-being. Unfortunately, CPSP often remains underdiagnosed and undertreated. To better understand the mechanism of CPSP development, we aimed to identify genetic variants associated with CPSP.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, CS, Italy.
Background/objectives: Frailty is a complex geriatric syndrome resulting in decreased physiological reserve. While genetics plays a role, the underlying mechanisms remain unsolved. Metallothioneins (MTs), metal-binding proteins with high affinity for zinc, an essential mineral for many physiological functions, are involved in processes including oxidative stress and inflammation.
View Article and Find Full Text PDFBiotechniques
January 2025
Othram Inc, The Woodlands, TX, USA.
KinSNP v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9 degree relationships) from five diverse populations from the 1000 Genomes Project.
View Article and Find Full Text PDFPoult Sci
January 2025
National and Regional Joint Engineering Laboratory for Medicament of Zoonoses Prevention and Control, Key Laboratory of Zoonoses, Ministry of Agriculture, Key Laboratory of Zoonoses Prevention and Control of Guangdong Province, Key Laboratory of Animal Vaccine Development, Ministry of Agriculture, College of Veterinary Medicine, South China Agricultural University, Guangzhou 510642, China. Electronic address:
Pullorum disease (PD) is a widespread disease that causes significant economic losses within the poultry industry of developing countries. An effective strategy for its prevention and control involves the implementation of decontamination procedures utilizing highly specific on-site detection techniques. In this study, a single-nucleotide polymorphism (SNP) site within the group_17537 gene of Salmonella enterica serovar Gallinarum biovars Pullorum (S.
View Article and Find Full Text PDFNarra J
December 2024
Division of Pediatric Cardiology, Department of Pediatric, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Congenital heart disease (CHD) represents nearly one-third of congenital birth defects annually, with ventricular septal defect (VSD) being the most common type. The aim of this study was to explore the role of specific GATA binding protein 6 gene () mutations as a potential etiological factor in the development of VSD through an in silico approach. Data were collected from the human gene databases: DisGeNET and GeneCards, with protein-protein interaction networks constructed via STRING and Cytoscape.
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