Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars
{"title":"Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars","authors":"Daffodil Canson, Dylan Glubb, Amanda B. Spurdle","doi":"10.1002/humu.24500","DOIUrl":null,"url":null,"abstract":"<p>Human Mutation, 41, 1705–1721 (2020). https://doi.org/10.1002/humu.24074</p><p>Dylan Glubb co-supervised first author Daffodil Canson through an Honorary appointment at the University of Queensland and he should be recognized as affiliated to below affiliation [2] in the original paper.</p><p><sup>2</sup>Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia</p>","PeriodicalId":13061,"journal":{"name":"Human Mutation","volume":"43 12","pages":"2328"},"PeriodicalIF":3.3000,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.24500","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Mutation","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/humu.24500","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 1
Abstract
Human Mutation, 41, 1705–1721 (2020). https://doi.org/10.1002/humu.24074
Dylan Glubb co-supervised first author Daffodil Canson through an Honorary appointment at the University of Queensland and he should be recognized as affiliated to below affiliation [2] in the original paper.
2Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia
期刊介绍：
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
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