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We present an extensible software model for the genotype and phenotype community, XGAP. Readers can download a standard XGAP (http://www.xgap.org) or auto-generate a custom version using MOLGENIS with programming interfaces to R-software and web-services or user interfaces for biologists. XGAP has simple load formats for any type of genotype, epigenotype, transcript, protein, metabolite or other phenotype data. Current functionality includes tools ranging from eQTL analysis in mouse to genome-wide association studies in humans.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864567 | PMC |
http://dx.doi.org/10.1186/gb-2010-11-3-r27 | DOI Listing |
Sci Justice
September 2025
School of Life Sciences, University of KwaZulu-Natal, Private Bag X54001, Westville, Durban 4000, South Africa. Electronic address:
A compound marker integrates two or more genetic markers into a single assay. The application of compound markers enhances the predictive accuracy of genetic testing by leveraging the strengths of different genetic variations while mitigating the limitations of individual markers. Compound markers include SNP-SNPs, SNP-STRs, DIP-SNPs, DIP-STRs, Multi-In/Dels, CpG-SNPs, CpG-STRs/CpG-In/Del, and Methylation-Microhaplotypes.
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September 2025
School of Computer and Information Engineering, Henan University, Kaifeng, Henan, China; Henan Key Laboratory of Big Data Analysis and Processing, Henan University, Kaifeng, Henan, China. Electronic address:
Genomic selection (GS) is a breeding technique that utilizes genomic markers to predict the genetic potential of crops and animals. This approach holds significant promise for accelerating the improvement of agronomic traits and addressing food security challenges. While traditional breeding methods based on statistical or machine learning techniques have been useful in predicting traits for some crops, they often fail to capture the complex interactions between genotypes and phenotypes.
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September 2025
Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP, 27 rue du Faubourg Saint-Jacques, 75014 Paris, France; Assistance Publique - Hôpitaux de Paris; Université de Paris, Sorbonne Paris Cité; Paris, France.
Purpose: To describe and compare the ophthalmological and extra-ophthalmological features of patients with Stickler syndrome due to pathogenic variants in COL2A1 and COL11A1.
Design: Retrospective cross-sectional study nested in a multicentric cohort study.
Methods: Records of patients with a confirmed molecular diagnosis of Stickler syndrome followed-up in the ophthalmology department at Necker-Enfants Malades and Cochin University hospitals (Paris) between 2016 and 2024 were retrospectively reviewed.
J Neurol Sci
August 2025
Faculty of Medicine, University of Brasilia, University Campus Darcy Ribeiro, UNB Área 1 - Asa Norte, Brasília, Federal District, Brazil.
Background: Dopa-responsive dystonia (DRD) is a rare genetic and neurotransmitter disorder also known as Segawa Disease. The guanosine triphosphate cyclohydrolase 1 (GCH1) gene variants, inherited in an autosomal dominant pattern, are the most common cause of DRD.
Objectives: To describe the genetic and clinical profile of a Brazilian cohort of DRD patients.
J Exp Bot
September 2025
PHIM Plant Health Institute, Univ Montpellier, INRAE, CIRAD, Institut Agro, IRD, Montpellier, France.
Varietal mixtures are a promising agro-ecological approach to stabilizing yields by reducing diseases. The effects of mixtures stem from modifications of epidemiological processes and underestimated plant-plant interactions, which could explain some of the paradoxical observations made in the field. However, the role of plant-plant interactions in modifying bread wheat and durum wheat susceptibility to Septoria tritici blotch remains to be elucidated.
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