Results 81 to 90 of about 67,573 (268)

Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell

Scientific Reports, 2022
Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4×) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV, particularly ...
Henry C. M. Leung, Huijing Yu, Yifan Zhang, Wing Sze Leung, Ivan F. M. Lo, Ho Ming Luk, Wai-Chun Law, Ka Kui Ma, Chak Lim Wong, Yat Sing Wong, Ruibang Luo, Tak-Wah Lam   +11 more
doaj   +1 more source

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]

, 2015
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C, Owoka, T, Saccone, S, Tosi, S, Vetter, M   +4 more
core   +2 more sources

TopCas: Topology‐Gated Cas12a via DNA‐RNA Chimeric Circular crRNA for Amplification‐Free Nucleic Acid Detection and Conditional Gene Editing

Advanced Science, EarlyView.
The TopCas platform utilizes an engineered DNA‐RNA chimeric circular crRNA to establish topology‐gated control over CRISPR‐Cas12a activity, enabling target‐triggered self‐catalytic amplification (preamplification‐free). This system seamlessly integrates highly sensitive molecular diagnostics with conditionally controlled gene editing, demonstrating ...
Shun Zhang, Wen Sun, Ting Xiao, Yali Wang, Xianlan Wu, Huiyou Chen, Ming Chen, Jun Zhang   +7 more
wiley   +1 more source

Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

BMC Medical Genetics, 2011
Background Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function.
Wu Kuang-Lun, Chen Yann-Jang, Fang Jye-Siung, Liao Hsiao-Mei, Lee Kuei-Fang, Chen Chia-Hsiang   +5 more
doaj   +1 more source

Comparing The Effects Of Menthol Status On The Behavioral Pharmacology Of Smoking Reduced Nicotine Content Cigarettes [PDF]

, 2017
Introduction: An active area of tobacco regulatory science research focuses on examining the effects of varying the nicotine content of cigarettes as part of a potential national policy to lower their nicotine content levels to reduce addiction potential.
Davis, Danielle
core   +1 more source

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]

, 2014
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M, Bailey, P, Barbour, A, Bruxner, T, Campbell, P, Christ, A, Fink, J, Gotley, D, Grimmond, S, Harliwong, I, Hayward, N, Holmes, O, Hussey, D, Idrisoglu, S, Kazakoff, S, Krause, L, Lampe, G, Leonard, C, Loffler, K, Lord, R, Manning, S, Miller, D, Nancarrow, D, Newell, F, Nones, K, Nourbakhsh, E, Nourse, C, Patch, A, Pearson, J, Phillips, W, Quek, K, Quinn, M, Reid, L, Simpson, P, Smithers, B, Tang, Y, Waddell, N, Waddell, N, Watson, D, Wayte, N, Whiteman, D, Wilson, P, Wood, S, Xu, Q   +43 more
core   +4 more sources

Relationship Between Knowledge and Compliance With Safety Measures: Evidence From COVID‐19

Applied Economic Perspectives and Policy, EarlyView.
ABSTRACT Compliance with health safety protocols is important for protecting public health, particularly in agricultural sectors where disease outbreaks can disrupt production and market access. Despite its economic significance, we know little about what drives protocol compliance.
Nilufer Cetik, Carola Grebitus, Lauren Chenarides   +2 more
wiley   +1 more source

Genetic characterization of human coxsackievirus A6 variants associated with atypical hand, foot and mouth disease: a potential role of recombination in emergence and pathogenicity [PDF]

, 2015
Human coxsackievirus A6 (CVA6) is an enterically transmitted enterovirus. Until recently, CVA6 infections were considered as being of minor clinical significance, and only rarely aetiologically linked with hand, foot and mouth disease (HFMD) associated ...
Gaunt, E, Harvala, H, Simmonds, P, Sreenu, VB, Thomson, E, Waris, M, Österback, R   +6 more
core   +1 more source

[Susceptibility to fluconazole of clinical interest yeasts: new breakpoints].

Revista espanola de quimioterapia : publicacion oficial de la Sociedad Espanola de Quimioterapia, 2013
Recently, Pfaller et al (Drug Resist Update 2010; 13:180-95), have proposed new breakpoints for determining the in vitro susceptibility to fluconazole of Candida albicans, C. parapsilosis and C. tropicalis. The aim of this study was to establish the variations in sensitivity of these species applying these breakpoints, in relation to those of the ...
Lidia, García-Agudo, Pedro, García-Martos, Pilar, Marín-Casanova, Manuel, Rodríguez-Iglesias   +3 more
openaire   +1 more source

Roadmap on Artificial Intelligence‐Augmented Additive Manufacturing

Advanced Intelligent Systems, EarlyView.
This Roadmap outlines the transformative role of artificial intelligence‐augmented additive manufacturing, highlighting advances in design, monitoring, and product development. By integrating tools such as generative design, computer vision, digital twins, and closed‐loop control, it presents pathways toward smart, scalable, and autonomous additive ...
Ali Zolfagharian, Liuchao Jin, Qi Ge, Wei‐Hsin Liao, Andrés Díaz Lantada, Francisco Franco Martínez, Tianyu Zhang, Tao Liu, Charlie C. L. Wang, Mohammad Hossein Mosallanejad, Reza Ghanavati, Abdollah Saboori, Alejandro De Blas De Miguel, William Solórzano‐Requejo, Yi Cai, Xiangyang Dong, Huangyi Qu, Najmeh Samadiani, Guangyan Huang, Austin Downey, Yanzhou Fu, Lang Yuan, Tsz‐Kwan (Glory) Lee, Arbind Agrahari Baniya, Eisha Waseem, Abdul Rahman Sani, Abbas Z. Kouzani, Yijia Wu, Markus P. Nemitz, Masoud Shirzad, Dageon Oh, Seung Yun Nam, Amedeo Franco Bonatti, Irene Chiesa, Gabriele Maria Fortunato, Giovanni Vozzi, Carmelo De Maria, Mahdi Bodaghi   +37 more
wiley   +1 more source