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Motivation: Genome-wide association studies (GWAS) based on single nucleotide polymorphism (SNP) arrays are the most widely used approach to detect loci associated to human traits. Due to the complexity of the methods and software packages available, each with its particular format requiring intricate management workflows, the analysis of GWAS usually confronts scientists with steep learning curves. Indeed, the wide variety of tools makes the parsing and manipulation of data the most time consuming and error prone part of a study. To help resolve these issues, we present GWASpi, a user-friendly, multiplatform, desktop-able application for the management and analysis of GWAS data, with a novel approach on database technologies to leverage the most out of commonly available desktop hardware. GWASpi aims to be a start-to-finish GWAS management application, from raw data to results, containing the most common analysis tools. As a result, GWASpi is easy to use and reduces in up to two orders of magnitude the time needed to perform the fundamental steps of a GWAS.
Availability: Freely available on the web at http://www.gwaspi.org. Implemented in Java, Apache-Derby and NetCDF-3, with all major operating systems supported.
Contact: gwaspi@upf.edu; arcadi.navarro@upf.edu.
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http://dx.doi.org/10.1093/bioinformatics/btr301 | 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 PDFPsychopharmacology (Berl)
September 2025
Institute of Cardiovascular Research, Sleep Medical Center, Department of Psychiatry, Fundamental and Clinical Research on Mental Disorders Key Laboratory of Luzhou, Affiliated Hospital, Southwest Medical University, Luzhou, Sichuan Province, 646000, China.
Rationale: Genome-wide association studies (GWASs) are used to identify genetic variants for association with schizophrenia (SCZ) risk; however, each GWAS can only reveal a small fraction of this association.
Objectives: This study systematically analyzed multiple GWAS data sets to identify gene subnetwork and pathways associated with SCZ.
Methods: We identified gene subnetwork using dmGWAS program by combining SCZ GWASs and a human interaction network, performed gene-set analysis to test the association of gene subnetwork with clinical symptom scores and disease state, meanwhile, conducted spatiotemporal and tissue-specific expression patterns and cell-type-specific analysis of genes in the subnetwork.
Am J Med Genet B Neuropsychiatr Genet
September 2025
The Central Lab, the Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, People's Republic of China.
Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD. However, their role in neuroimmune interactions and behavioral outcomes remains poorly understood.
View Article and Find Full Text PDFHealth Sci Rep
September 2025
Department of Dermatology the Union Hospital, Fujian Medical University Fuzhou People's Republic of China.
Background And Aims: Several observational studies have reported inconsistent associations between dyslipidaemia, stains use and atopic dermatitis (AD). Nevertheless, the available data on the effects of -C-lowering as well as TG-lowering drugs remain inconclusive and limited. The aim of this study was to evaluate the causal association of lipid traits and long-term use of lipid-lowering drugs on AD risk.
View Article and Find Full Text PDFNat Sci Sleep
September 2025
Department of Respiratory Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, People's Republic of China.
Background: Recent research has increasingly underscored a significant correlation between gut microbiota and obstructive sleep apnea (OSA). Probiotics have emerged as promising adjunctive interventions for OSA. Metabolites and their related biochemical pathways have emerged as important contributors to the development of OSA.
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