John Herriges , Zoe K. Lewis , Bradley Coe , Cassandra K. Runke , Rachel D. Burnside , Laura K. Conlin , Benjamin A. Hilton , Nicole Hoppman , Vaidehi Jobanputra , Brynn Levy , Lucilla Pizzo , Erin Rooney Riggs , Andrea K. Vaags , Shulin Zhang , Christa Lese Martin , Erica F. Andersen
{"title":"19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation","authors":"John Herriges , Zoe K. Lewis , Bradley Coe , Cassandra K. Runke , Rachel D. Burnside , Laura K. Conlin , Benjamin A. Hilton , Nicole Hoppman , Vaidehi Jobanputra , Brynn Levy , Lucilla Pizzo , Erin Rooney Riggs , Andrea K. Vaags , Shulin Zhang , Christa Lese Martin , Erica F. Andersen","doi":"10.1016/j.gimo.2024.101936","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101936"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine Open","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2949774424010823","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}