Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Luca Saba, Anurag Tiwari, Mainak Biswas, Suneet Kumar Gupta, Elisa Godia-Cuadrado, Amrita Chaturvedi, Monika Turk, Harman S Suri, Sandro Orru, J Miguel Sanches, Carlo Carcassi, Rui Tato Marinho, Christopher Kwaku Asare, Narendra N Khanna, Madhusudhan B K, Jasjit S Suri
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引用次数: 13

Abstract

Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analysis, pattern recognition using different computing approaches and fusion possibilities in imaging and genetic dataset are discussed vividly. We categorized this study into three major sections: (A) WD genetics, (B) diagnosis guidelines and (3) treatment possibilities. We addressed the scope of advanced mathematical modelling paradigms for understanding common genetic sequences and dominating WD imaging biomarkers. We have also discussed current state-of-the-art software models for genetic sequencing. Further, we hypothesized that involvement of machine and deep learning techniques in the context of WD genetics and image processing for precise classification of WD. These computing procedures signify changing roles of various data transformation techniques with respect to supervised and unsupervised learning models.

肝豆状核变性:遗传学、诊断和治疗的新进展。
威尔逊氏病(WD)是一种常染色体隐性遗传病,是由哺乳动物细胞铜排泄不良引起的。本文就ATP7B基因的有效表征、遗传分析中基因网络拓扑的范围、不同计算方法的模式识别以及成像和遗传数据集的融合可能性等问题进行了深入讨论。我们将这项研究分为三个主要部分:(A) WD遗传学,(B)诊断指南和(3)治疗可能性。我们讨论了用于理解常见基因序列和主导WD成像生物标志物的高级数学建模范例的范围。我们还讨论了目前最先进的基因测序软件模型。此外,我们假设机器和深度学习技术在WD遗传学和图像处理的背景下参与WD的精确分类。这些计算过程表明了各种数据转换技术在有监督和无监督学习模型方面的角色变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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