{"title":"Toward Identification of Functional Sequences and Variants in Noncoding DNA.","authors":"Remo Monti, Uwe Ohler","doi":"10.1146/annurev-biodatasci-122120-110102","DOIUrl":null,"url":null,"abstract":"<p><p>Understanding the noncoding part of the genome, which encodes gene regulation, is necessary to identify genetic mechanisms of disease and translate findings from genome-wide association studies into actionable results for treatments and personalized care. Here we provide an overview of the computational analysis of noncoding regions, starting from gene-regulatory mechanisms and their representation in data. Deep learning methods, when applied to these data, highlight important regulatory sequence elements and predict the functional effects of genetic variants. These and other algorithms are used to predict damaging sequence variants. Finally, we introduce rare-variant association tests that incorporate functional annotations and predictions in order to increase interpretability and statistical power.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"6 ","pages":"191-210"},"PeriodicalIF":7.0000,"publicationDate":"2023-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual Review of Biomedical Data Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1146/annurev-biodatasci-122120-110102","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MATHEMATICAL & COMPUTATIONAL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Understanding the noncoding part of the genome, which encodes gene regulation, is necessary to identify genetic mechanisms of disease and translate findings from genome-wide association studies into actionable results for treatments and personalized care. Here we provide an overview of the computational analysis of noncoding regions, starting from gene-regulatory mechanisms and their representation in data. Deep learning methods, when applied to these data, highlight important regulatory sequence elements and predict the functional effects of genetic variants. These and other algorithms are used to predict damaging sequence variants. Finally, we introduce rare-variant association tests that incorporate functional annotations and predictions in order to increase interpretability and statistical power.
期刊介绍：
The Annual Review of Biomedical Data Science provides comprehensive expert reviews in biomedical data science, focusing on advanced methods to store, retrieve, analyze, and organize biomedical data and knowledge. The scope of the journal encompasses informatics, computational, artificial intelligence (AI), and statistical approaches to biomedical data, including the sub-fields of bioinformatics, computational biology, biomedical informatics, clinical and clinical research informatics, biostatistics, and imaging informatics. The mission of the journal is to identify both emerging and established areas of biomedical data science, and the leaders in these fields.
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