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SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome.
Funct Integr Genomics
January 2025
Children's Medical Center, Peking University First Hospital, No.5 Le Yuan Road, Daxing District, 100034, Beijing, China.
Long-read sequencing has emerged as a transformative technology in recent years, offering significant potential for the molecular diagnosis of unresolved genetic disorders. Despite its promise, the comprehensive detection and clinical annotation of genomic variants remain intricate and technically demanding. We present SUMMER, an integrated and structured workflow specifically designed to process raw Nanopore sequencing reads.
View Article and Find Full Text PDFRole of polyamines in intestinal mucosal barrier function.
Semin Immunopathol
January 2025
Dairy Science and Technology Institute, Kyodo Milk Industry Co. Ltd, 20-1 Hirai, Hinode-Machi, Nishitama-Gun, Tokyo, 190-0182, Japan.
The intestinal epithelium is a rapidly self-renewing tissue; the rapid turnover prevents the invasion of pathogens and harmful components from the intestinal lumen, preventing inflammation and infectious diseases. Intestinal epithelial barrier function depends on the epithelial cell proliferation and junctions, as well as the state of the immune system in the lamina propria. Polyamines, particularly putrescine, spermidine, and spermine, are essential for many cell functions and play a crucial role in mammalian cellular homeostasis, such as that of cell growth, proliferation, differentiation, and maintenance, through multiple biological processes, including translation, transcription, and autophagy.
View Article and Find Full Text PDFEthnic-racial discrimination, identity, and out-group contact in context: A systematic review of daily process studies.
Cultur Divers Ethnic Minor Psychol
January 2025
Harvard Graduate School of Education, Harvard University.
Objectives: Understanding how ethnicity and race shape individuals' everyday experiences in context is critical for advancing scientific rigor and addressing ethnic-racial inequities. Daily process studies (e.g.
View Article and Find Full Text PDFRange and accuracy of in-plane anisotropic thermal conductivity measurement using the laser-based Ångstrom method.
Rev Sci Instrum
January 2025
Birck Nanotechnology Center and the School of Mechanical Engineering, Purdue University, West Lafayette, Indiana 47907, USA.
High heat fluxes in electronic devices must be effectively dissipated to prevent local hotspots, which are critical for long-term device reliability. In particular, advanced semiconductor packaging trends toward thin form factor products increase the need for understanding and improving in-plane conduction heat spreading in anisotropic materials. The 2D laser-based Ångstrom method, an extension of traditional Ångstrom and lock-in thermography techniques, measures in-plane thermal properties of anisotropic sheet-like materials.
View Article and Find Full Text PDF[État de l'auto-soutien des patientes âgées atteintes d'un cancer du sein et facteurs individuels associés].
Geriatr Psychol Neuropsychiatr Vieil
December 2024
There is still much room for improving the self-advocacy of elderly female patients with breast cancer. Subjects (168 in total) were selected from elderly female patients with breast cancer who had been hospitalized from May to December 2022 using the convenience sampling method. Assessment was conducted for the status quo of self-advocacy of subjects using the Chinese version of Female Self-Advocacy in Cancer Survivorship (FSACS).
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