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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data.
BMC Med Genomics
January 2025
Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data.
View Article and Find Full Text PDFSingle cell RNA sequencing improves the next generation of approaches to AML treatment: challenges and perspectives.
Mol Med
January 2025
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 8174673461, Iran.
Acute myeloid leukemia (AML) is caused by altered maturation and differentiation of myeloid blasts, as well as transcriptional/epigenetic alterations, all leading to excessive proliferation of malignant blood cells in the bone marrow. Tumor heterogeneity due to the acquisition of new somatic alterations leads to a high rate of resistance to current therapies or reduces the efficacy of hematopoietic stem cell transplantation (HSCT), thus increasing the risk of relapse and mortality. Single-cell RNA sequencing (scRNA-seq) will enable the classification of AML and guide treatment approaches by profiling patients with different facets of the same disease, stratifying risk, and identifying new potential therapeutic targets at the time of diagnosis or after treatment.
View Article and Find Full Text PDFTargeting ABCD1-ACOX1-MET/IGF1R axis suppresses multiple myeloma.
Leukemia
January 2025
Department of Pathology, Duke University School of Medicine, Durham, NC, 27710, USA.
Multiple myeloma (MM) remains an incurable hematological malignancy that necessitates the identification of novel therapeutic strategies. Here, we report that intracellular levels of very long chain fatty acids (VLCFAs) control the cytotoxicity of MM chemotherapeutic agents. Inhibition of VLCFA biosynthesis reduced cell death in MM cells caused by the proteasome inhibitor, bortezomib.
View Article and Find Full Text PDFMendelian randomization analysis does not support a causal influence between lipoprotein(A) and immune-mediated inflammatory diseases.
Sci Rep
January 2025
State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research of MOE, NHC, CAMS and Shandong Province; Department of Cardiology, Qilu Hospital of Shandong University, Jinan, China.
Observational studies have reported an association between lipoprotein(a) (Lp(a)) and immune-mediated inflammatory diseases (IMIDs). This study used Mendelian Randomization (MR) and multivariable MR (MVMR) to explore the causal relationship between lipoprotein(a) [Lp(a)] and immune-mediated inflammatory diseases (IMIDs). We performed a bidirectional two-sample mendelian randomization analyses based on genome-wide association study (GWAS) summary statistics of Lp(a) and nine IMIDs, specifically celiac disease (CeD), Crohn's disease (CD), ulcerative colitis (UC), inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis (Pso), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), and summary-level data for lipid traits.
View Article and Find Full Text PDFOptimized convolutional neural network using African vulture optimization algorithm for the detection of exons.
Sci Rep
January 2025
Department of Communication Engineering, School of Electronics Engineering, Vellore Institute of Technology, Vellore, Tamil Nadu, 632014, India.
The detection of exons is an important area of research in genomic sequence analysis. Many signal-processing methods have been established successfully for detecting the exons based on their periodicity property. However, some improvement is still required to increase the identification accuracy of exons.
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