{"title":"基于语义排序的基因组学与临床信息关联","authors":"F. Cristiano, G. Tradigo, P. Veltri","doi":"10.1145/3107411.3107436","DOIUrl":null,"url":null,"abstract":"Relating genomic data with clinical and disease information is a new challenge for life sciences research. High performance computational platforms allow huge quantity of biological data production with new technologies (e.g. Next Generation Sequencing techniques). Nowadays, genomic ontologies describing genes and functions, as well as databases containing diseases groups, are available. We focus on the problem of enriching genomic datasets containing miRNA genes by adding related disease information. The enrichment is performed by using ontologies to find genes-to-diseases associations. Ontologies are used to describe molecular genomic processes and functions, as well as disease classes and experimental details. International Classification of Diseases (ICD) is used for the classification of diseases and clinical information. Diseases are ranked by using a Google Page Rank based algorithm. An application tool called Surf App! has been coded and developed in R and tested on a neurological disease dataset.","PeriodicalId":246388,"journal":{"name":"Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics","volume":"16 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2017-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Associating Genomics and Clinical Information by Means of Semantic Based Ranking\",\"authors\":\"F. Cristiano, G. Tradigo, P. Veltri\",\"doi\":\"10.1145/3107411.3107436\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Relating genomic data with clinical and disease information is a new challenge for life sciences research. High performance computational platforms allow huge quantity of biological data production with new technologies (e.g. Next Generation Sequencing techniques). Nowadays, genomic ontologies describing genes and functions, as well as databases containing diseases groups, are available. We focus on the problem of enriching genomic datasets containing miRNA genes by adding related disease information. The enrichment is performed by using ontologies to find genes-to-diseases associations. Ontologies are used to describe molecular genomic processes and functions, as well as disease classes and experimental details. International Classification of Diseases (ICD) is used for the classification of diseases and clinical information. Diseases are ranked by using a Google Page Rank based algorithm. An application tool called Surf App! has been coded and developed in R and tested on a neurological disease dataset.\",\"PeriodicalId\":246388,\"journal\":{\"name\":\"Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics\",\"volume\":\"16 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1145/3107411.3107436\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1145/3107411.3107436","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Associating Genomics and Clinical Information by Means of Semantic Based Ranking
Relating genomic data with clinical and disease information is a new challenge for life sciences research. High performance computational platforms allow huge quantity of biological data production with new technologies (e.g. Next Generation Sequencing techniques). Nowadays, genomic ontologies describing genes and functions, as well as databases containing diseases groups, are available. We focus on the problem of enriching genomic datasets containing miRNA genes by adding related disease information. The enrichment is performed by using ontologies to find genes-to-diseases associations. Ontologies are used to describe molecular genomic processes and functions, as well as disease classes and experimental details. International Classification of Diseases (ICD) is used for the classification of diseases and clinical information. Diseases are ranked by using a Google Page Rank based algorithm. An application tool called Surf App! has been coded and developed in R and tested on a neurological disease dataset.