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
{"title":"肝豆状核变性:遗传学、诊断和治疗的新进展。","authors":"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","doi":"10.2741/E854","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":73068,"journal":{"name":"Frontiers in bioscience (Elite edition)","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"13","resultStr":"{\"title\":\"Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.\",\"authors\":\"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\",\"doi\":\"10.2741/E854\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":73068,\"journal\":{\"name\":\"Frontiers in bioscience (Elite edition)\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"13\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Frontiers in bioscience (Elite edition)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2741/E854\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in bioscience (Elite edition)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2741/E854","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.
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.