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Association studies are the choice approach in the discovery of the genomic basis of complex traits. To carry out such analysis, researchers frequently need to (1) select optimally informative sets of Single Nucleotide Polymorphisms (SNPs) in candidate regions and (2) annotate the results of associations found by means of genome-wide SNP arrays. These are complex tasks, since many criteria have to be considered, including the SNPs' functional properties, technological information and haplotype frequencies in given populations. SYSNPs implements algorithms that allow for efficient and simultaneous consideration of all the relevant criteria to obtain sets of SNPs that properly cover arbitrarily large lists of genes or genomic regions. Complementarily, SYSNPs allows for comprehensive functional annotation of SNPs linked to any given marker SNP. SYSNPs dramatically reduces the effort needed for SNP selection from days of searching various databases to a few minutes using a simple browser.
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http://dx.doi.org/10.1504/ijdmb.2012.049249 | DOI Listing |
Mar Biotechnol (NY)
September 2025
Yazhou Bay Innovation Institute, Hainan Tropical Ocean University, Sanya, China.
Epinephelus tukula is an economically important aquaculture animal, and a major parent in grouper crossbreeding. To better preserve and exploit E. tukula germplasm resources, a core collection (containing 34 individuals derived from 10 genetic groups) was first constructed based on phenotypic growth traits and whole-genome resequencing (WGS) data.
View Article and Find Full Text PDFVet World
July 2025
Research Center for Applied Zoology, National Research and Innovation Agency, Republic of Indonesia, Bogor, Indonesia.
Background And Aim: The () gene plays a pivotal role in regulating growth, metabolism, and fat deposition in cattle. Genetic polymorphisms in this gene can influence phenotypic traits and may serve as molecular markers for selection in breeding programs. However, comprehensive characterization of gene variants in local Indonesian breeds, such as Madura cattle, remains limited.
View Article and Find Full Text PDFSci Prog
September 2025
Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen, China.
BackgroundGlaucoma is recognized as the second-leading cause of complete blindness in developed countries and a significant contributor to irreversible vision loss worldwide. Understanding the potential genetic links between neurodegenerative diseases, such as Parkinson's disease, and glaucoma is crucial for developing preventive strategies.MethodsThis study utilized data from Genome-Wide Association Studies databases, focusing on European populations without gender restrictions.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
September 2025
The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, United Kingdom.
Purpose: To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders.
Methods: We applied deep-learning algorithms to quantify foveal pit depth from central optical coherence tomography (OCT) B-scans in 61,269 UK Biobank participants. A genome-wide association study (GWAS) was conducted using REGENIE, adjusting for age, sex, height, and ancestry.
Arch Esp Urol
August 2025
Department of Urology, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, 214000 Wuxi, Jiangsu, China.
Background: A plethora of studies have demonstrated that the level of uric acid (UA) and gout are the risk factors for erectile dysfunction (ED). However, the causal effect of UA level and gout on ED is still unclear. This Mendelian randomization (MR) study aims to examine the bidirectional causality between ED and UA levels as well as gout.
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