{"title":"Machine Learning for Multi-Omics Data Integration and Variant Pathogenicity Estimation","authors":"Shuang Li, K. V. D. Velde, M. Swertz","doi":"10.1109/eScience.2018.00062","DOIUrl":null,"url":null,"abstract":"The rapid advances in the genomic study have made genetics testing common in today's diagnostic practices [1]. Next-generation sequencing provides researchers with a huge amount of genomic data, yet the interpretation still in its infancy [5].The diagnostics yield is still around 30% [1, 3, 8]. Interpretation tools for analyzing the genomic data is needed.","PeriodicalId":6476,"journal":{"name":"2018 IEEE 14th International Conference on e-Science (e-Science)","volume":"48 1","pages":"301-301"},"PeriodicalIF":0.0000,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"2018 IEEE 14th International Conference on e-Science (e-Science)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/eScience.2018.00062","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
The rapid advances in the genomic study have made genetics testing common in today's diagnostic practices [1]. Next-generation sequencing provides researchers with a huge amount of genomic data, yet the interpretation still in its infancy [5].The diagnostics yield is still around 30% [1, 3, 8]. Interpretation tools for analyzing the genomic data is needed.