17 research outputs found

    Artificial intelligence and database for NGS-based diagnosis in rare disease

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    Rare diseases (RDs) are rare complex genetic diseases affecting a conservative estimate of 300 million people worldwide. Recent Next-Generation Sequencing (NGS) studies are unraveling the underlying genetic heterogeneity of this group of diseases. NGS-based methods used in RDs studies have improved the diagnosis and management of RDs. Concomitantly, a suite of bioinformatics tools has been developed to sort through big data generated by NGS to understand RDs better. However, there are concerns regarding the lack of consistency among different methods, primarily linked to factors such as the lack of uniformity in input and output formats, the absence of a standardized measure for predictive accuracy, and the regularity of updates to the annotation database. Today, artificial intelligence (AI), particularly deep learning, is widely used in a variety of biological contexts, changing the healthcare system. AI has demonstrated promising capabilities in boosting variant calling precision, refining variant prediction, and enhancing the user-friendliness of electronic health record (EHR) systems in NGS-based diagnostics. This paper reviews the state of the art of AI in NGS-based genetics, and its future directions and challenges. It also compare several rare disease databases

    Author Correction: The landscape of viral associations in human cancers

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    author correctio

    Detection and characterisation of defects in directed energy deposited multi-material components using full waveform inversion and reverse time migration

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    Directed energy deposition (DED) is capable in producing complex or high-value components with good mechanical properties. Despite these potential advantages, the quality and integrity of multi-material DED parts, remains a challenging issue that limits its wide applications. Material porosity in multi-material components is detrimental since it may lead to premature structural failure. This paper proposes a two-stage ultrasonic method to characterise the internal structure to enhance the understanding of the process parameters on material porosity. In this method, the low-frequency model building aims at reconstructing background structure and the high-frequency imaging targets at small defects. The first stage is based on the gradient sampling full-waveform inversion for the estimation of the velocity model, which is then used as the initial model for the reverse time migration for reflectivity. The experimental results show that accurate reconstructions of the interface between two materials and defects in multi-material DED components can be achieved.Jing Rao was supported by the start-up grant from UNSW Canberra [grant number PS63396]. Jizhong Yang was supported by the National Natural Science Foundation of China [grant number 42004096] and the Fundamental Research Funds for the Central Universities

    Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

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    author correctio

    The communicative aspects of trade marks : a legal, functional and economic analysis.

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    PhDThe Ph.D. thesis looks extensively at the history and functions of trade marks and attempts to outline a theory for trade mark protection established on their communicative aspects. The second chapter is a historical note which looks at trade marks as traces of history and sets the grounds for a functional analysis. The third chapter deals with the proprietary aspects of trade marks, seeking to establish a theoretical deontological argument for their legal protection. The functional analysis of trade marks concentrates on their contemporary role as a fiat of information between marketers, consumers and competitors. The economic analysis is developed around the dualistic nature of trade marks, being on the one hand an essential prerequisite for competition and on the other a potentially perpetual monopoly. The balance between the two as depicted by their legal protection is being continuously re-established. The main object of this thesis is to show that it is the nature of trade marks as a multidirectional system of exchange of information that must form the basis for their protection

    Cancer Stem Cells in Oral Squamous Cell Carcinoma: A Narrative Review on Experimental Characteristics and Methodological Challenges

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    Cancer stem cells (CSCs) represent a subpopulation of cancer cells that are believed to initiate and drive cancer progression. In animal models, xenotransplanted CSCs have demonstrated the ability to produce tumors. Since their initial isolation in blood cancers, CSCs have been identified in various solid human cancers, including oral squamous cell carcinoma (OSCC). In addition to their tumorigenic properties, dysregulated stem-cell-related signaling pathways—Wnt family member (Wnt), neurogenic locus notch homolog protein (Notch), and hedgehog—have been shown to endow CSCs with characteristics like self-renewal, phenotypic plasticity, and chemoresistance, contributing to recurrence and treatment failure. Consequently, CSCs have become targets for new therapeutic agents, with some currently in different phases of clinical trials. Notably, small molecule inhibitors of the hedgehog signaling pathway, such as vismodegib and glasdegib, have been approved for the treatment of basal cell carcinoma and acute myeloid leukemia, respectively. Other strategies for eradicating CSCs include natural compounds, nano-drug delivery systems, targeting mitochondria and the CSC microenvironment, autophagy, hyperthermia, and immunotherapy. Despite the extensive documentation of CSCs in OSCC since its first demonstration in head and neck (HN) SCC in 2007, none of these novel pharmacological approaches have yet entered clinical trials for OSCC patients. This narrative review summarizes the in vivo and in vitro evidence of CSCs and CSC-related signaling pathways in OSCC, highlighting their role in promoting chemoresistance and immunotherapy resistance. Additionally, it addresses methodological challenges and discusses future research directions to improve experimental systems and advance CSC studies
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