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| http://dx.doi.org/10.1038/s41431-019-0474-6 | DOI Listing |
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Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Hum Genomics
January 2025
Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.
View Article and Find Full Text PDFGene signatures derived from transcriptomic-causal networks stratify colorectal cancer patients for effective targeted therapy.
Commun Med (Lond)
January 2025
Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Gene signatures derived from transcriptomic-causal networks offer potential for tailoring clinical care in cancer treatment by identifying predictive and prognostic biomarkers. This study aimed to uncover such signatures in metastatic colorectal cancer (CRC) patients to aid treatment decisions.
Methods: We constructed transcriptomic-causal networks and integrated gene interconnectivity into overall survival (OS) analysis to control for confounding genes.
Migration of primordial germ cells and their relationship of PGCs with sex development in transgenic germline-specific fluorescent freshwater angelfish (Pterophyllum scalare).
Sci Rep
January 2025
Marine Molecular Genetics & Biotechnology Laboratory, Department of Aquaculture, National Taiwan Ocean University, Keelung, 202301, Taiwan.
Primordial germ cells (PGCs), the progenitors of gametes, are essential for teleost reproduction. While their formation is conserved across teleosts, the activation, migration routes, and localization periods vary among species. In this study, we developed a novel transgenic line, Tg(ddx4:TcCFP13-nanos3), based on the Nile tilapia genome, to label PGCs with clear fluorescent signals in the freshwater angelfish (Pterophyllum scalare).
View Article and Find Full Text PDFFunctional evaluation and clinical classification of BRCA2 variants.
Nature
January 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.
View Article and Find Full Text PDFA foundation model of transcription across human cell types.
Nature
January 2025
Program of Mathematical Genomics, Department of Systems Biology, Columbia University, New York, NY, USA.
Transcriptional regulation, which involves a complex interplay between regulatory sequences and proteins, directs all biological processes. Computational models of transcription lack generalizability to accurately extrapolate to unseen cell types and conditions. Here we introduce GET (general expression transformer), an interpretable foundation model designed to uncover regulatory grammars across 213 human fetal and adult cell types.
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