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Transposable elements shape the landscape of heterozygous structural variation in a bird genome.
Zool Res
January 2025
Integrative Science Center of Germplasm Creation in Western China (Chongqing) Science City, MOE Key Laboratory of Freshwater Fish Reproduction and Development, School of Life Sciences, Southwest University, Chongqing 400715, China. E-mail:
Avian genomes exhibit compact organization and remarkable chromosomal stability. However, the extent and mechanisms by which structural variation in avian genomes differ from those in other vertebrate lineages are poorly explored. This study generated a diploid genome assembly for the golden pheasant ( ), a species distinguished by the vibrant plumage of males.
View Article and Find Full Text PDFAssociation between the Taq1A polymorphism and problematic media use in preadolescent children.
Front Psychol
January 2025
Department of Pediatrics, Geisel School of Medicine at Dartmouth College, Lebanon, NH, United States.
Objective: Problematic media use (PMU) is addiction-like media use. No study has examined if genetic factors for addiction relate to PMU during childhood. This study tested the association between genetic risk factors for addiction and PMU among 9-to-12-year-olds.
View Article and Find Full Text PDFSpatial deconvolution from bulk DNA methylation profiles determines intratumoral epigenetic heterogeneity.
Cell Biosci
January 2025
Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases, Guangdong Institute of Gastroenterology, The Sixth Affiliated Hospital, Sun Yat-sen University, 26 Yuancun Erheng Road, Guangzhou, 510655, Guangdong, China.
Background: Intratumoral heterogeneity emerges from accumulating genetic and epigenetic changes during tumorigenesis, which may contribute to therapeutic failure and drug resistance. However, the lack of a quick and convenient approach to determine the intratumoral epigenetic heterogeneity (eITH) limit the application of eITH in clinical settings. Here, we aimed to develop a tool that can evaluate the eITH using the DNA methylation profiles from bulk tumors.
View Article and Find Full Text PDFHow to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Ann Hematol
January 2025
Hematology Service, Experimental Hematology, Vall d'Hebron Hospital Universitari, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
This study investigated the importance of comprehensive genetic diagnosis in pediatric B-cell acute lymphoblastic leukemia (B-ALL). We analyzed 175 B-ALL employing karyotyping, FISH, MLPA, targeted next-generation sequencing (t-NGS), and Optical Genome Mapping (OGM). This approach achieved an 83% classification rate, identifying 17 distinct genetic subtypes.
View Article and Find Full Text PDFAntibiotic resistance mediated by gene amplifications.
NPJ Antimicrob Resist
November 2024
Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Apart from horizontal gene transfer and sequence-altering mutational events, antibiotic resistance can emerge due to the formation of tandem repeats of genomic regions. This phenomenon, also known as gene amplification, has been implicated in antibiotic resistance in both laboratory and clinical scenarios, where the evolution of resistance via amplifications can affect treatment efficacy. Antibiotic resistance mediated by gene amplifications is unstable and consequently can be difficult to detect, due to amplification loss in the absence of the selective pressure of the antibiotic.
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