{"title":"剪接调控元件、分支点使用和假外显子化的变异效应:以遗传癌症基因为例增强生物信息学预测的策略","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":3,"journal":{"name":"ACS Applied Electronic Materials","volume":null,"pages":null},"PeriodicalIF":4.3000,"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":"{\"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\":3,\"journal\":{\"name\":\"ACS Applied Electronic Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"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\":\"ACS Applied Electronic Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/humu.24500\",\"RegionNum\":3,\"RegionCategory\":\"材料科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENGINEERING, ELECTRICAL & ELECTRONIC\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Electronic Materials","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/humu.24500","RegionNum":3,"RegionCategory":"材料科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENGINEERING, ELECTRICAL & ELECTRONIC","Score":null,"Total":0}
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars
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