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Real or imputed high-density SNP genotypes are routinely used for genomic prediction and genome-wide association studies. Many researchers are moving toward the use of actual or imputed next-generation sequence data in whole-genome analyses. Simulation studies are useful to mimic complex scenarios and test different analytical methods. We have developed the software tool XSim to efficiently simulate sequence data in descendants in arbitrary pedigrees. In this software, a strategy to drop-down origins and positions of chromosomal segments rather than every allele state is implemented to simulate sequence data and to accommodate complicated pedigree structures across multiple generations. Both C++ and Julia versions of XSim have been developed.
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http://dx.doi.org/10.1534/g3.115.016683 | DOI Listing |
Med Oncol
September 2025
Division of Hematology and Blood Bank, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
Acute Myeloid Leukemia (AML) patient-derived Mesenchymal Stem Cells (MSCs) behave differently than normal ones, creating a more protective environment for leukemia cells, making relapse harder to prevent. This study aimed to identify prognostic biomarkers and elucidate relevant biological pathways in AML by leveraging microarray data and advanced bioinformatics techniques. We retrieved the GSE122917 dataset from the NCBI Gene Expression Omnibus and performed differential expression analysis (DEA) within R Studio to identify differentially expressed genes (DEGs) among healthy donors, newly diagnosed AML patients, and relapsed AML patients.
View Article and Find Full Text PDFPlanta
September 2025
Department of Biology, University of Naples Federico II, Via Cinthia 26, 80126, Naples, Italy.
The first complete plastid genome of the critically endangered species Valeriana trinervis was sequenced, assembled and compared with other published Valeriana plastomes. In this study, we assembled the plastid genome of the critically endangered, endemic species Valeriana trinervis (= Centranthus trinervis) and compare it with all published plastomes of Valeriana. We found not only differences in the inverted repeats boundaries, in the type and abundance of repeats, but also similarities in codon usage and microsatellite numbers.
View Article and Find Full Text PDFMol Biol Rep
September 2025
Cytogenetics and Molecular Genetics Lab, Pathology Unit, Medical Division (BARC Hospital), Bhabha Atomic Research Centre, Anushakti Nagar, Mumbai, India.
Background: Hearing loss (HL) is one of the most common congenital anomalies and is a complex etiologically diverse condition. Molecular genetic characterization of HL remains challenging owing to the high genetic heterogeneity. This study aimed to screen for potential disease-causing genetic variations in a cohort of Indian patients with congenital bilateral severe-to-profound sensorineural HL.
View Article and Find Full Text PDFJ Magn Reson Imaging
September 2025
School of Biomedical Engineering, Guangdong Provincial Key Laboratory of Medical Image Processing and Guangdong Province Engineering Laboratory for Medical Imaging and Diagnostic Technology, Southern Medical University, Guangzhou, China.
Background: The dynamic progression of gray matter (GM) microstructural alterations following radiotherapy (RT) in patients, and the relationship between these microstructural abnormalities and cortical morphometric changes remains unclear.
Purpose: To longitudinally characterize RT-related GM microstructural changes and assess their potential causal links with classic morphometric alterations in patients with nasopharyngeal carcinoma (NPC).
Study Type: Prospective, longitudinal.
Funct Integr Genomics
September 2025
Department of Plastic Surgery, the First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China.
Keloid scarring and Metabolic Syndrome (MS) are distinct conditions marked by chronic inflammation and tissue dysregulation, suggesting shared pathogenic mechanisms. Identifying common regulatory genes could unveil novel therapeutic targets. Methods.
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