Issue Information

{"title":"Issue Information","authors":"","doi":"10.1002/cphg.91","DOIUrl":null,"url":null,"abstract":"<p><b>Cover</b>: In Spector and Wiita. (http://doi.org/10.1002/cphg.106), the image shows a screenshot of ClinTAD's <b><i>Single</i></b> page for the example case. The top section of this page contains the input fields. The middle section contains an interactive visualization with several types of elements. These elements can include topologically associated domains (red), the copy number variant (green), genes with no phenotype matches (blue), genes with phenotype matches (orange), VISTA enhancers (purple), and DGV duplications (blue) and deletions (red). For the example case, both the <i>MCTP2</i> (left side) and <i>NR2F2</i> (right side) genes are highlighted in orange, indicating that they are associated with phenotypes that match to the patient. The last section of the page shows additional information for elements that are clicked on, in this case the <i>MCTP2</i> gene.\n\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure></p>","PeriodicalId":40007,"journal":{"name":"Current Protocols in Human Genetics","volume":"108 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/cphg.91","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Protocols in Human Genetics","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cphg.91","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract

Cover: In Spector and Wiita. (http://doi.org/10.1002/cphg.106), the image shows a screenshot of ClinTAD's Single page for the example case. The top section of this page contains the input fields. The middle section contains an interactive visualization with several types of elements. These elements can include topologically associated domains (red), the copy number variant (green), genes with no phenotype matches (blue), genes with phenotype matches (orange), VISTA enhancers (purple), and DGV duplications (blue) and deletions (red). For the example case, both the MCTP2 (left side) and NR2F2 (right side) genes are highlighted in orange, indicating that they are associated with phenotypes that match to the patient. The last section of the page shows additional information for elements that are clicked on, in this case the MCTP2 gene.

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封面:斯佩克特和威塔。(http://doi.org/10.1002/cphg.106),该图显示了示例案例的ClinTAD的Single页面的屏幕截图。此页面的顶部包含输入字段。中间部分包含一个具有多种类型元素的交互式可视化。这些元件可以包括拓扑相关结构域(红色)、拷贝数变体(绿色)、没有表型匹配的基因(蓝色)、有表型匹配的遗传基因(橙色)、VISTA增强子(紫色)以及DGV重复(蓝色)和缺失(红色)。在示例性病例中,MCTP2(左侧)和NR2F2(右侧)基因均以橙色突出显示,表明它们与与患者匹配的表型相关。页面的最后一部分显示了被点击的元素的附加信息,在本例中是MCTP2基因。
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Current Protocols in Human Genetics
Current Protocols in Human Genetics Biochemistry, Genetics and Molecular Biology-Genetics
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期刊介绍: Current Protocols in Human Genetics is the resource for designing and running successful research projects in all branches of human genetics.
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Issue Information Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing Informed Consent for Genetic and Genomic Research A Guide to Using ClinTAD for Interpretation of DNA Copy Number Variants in the Context of Topologically Associated Domains The AD Knowledge Portal: A Repository for Multi-Omic Data on Alzheimer's Disease and Aging
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