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Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

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第一作者： Audrey K,O'Neill

第一单位： Ambry Genetics, 1 Enterprise Drive, Aliso Viejo, California, 92656, USA.

作者： Audrey K,O'Neill ^[1] ; Grace E,VanNoy ^[2] ; Brooklynn,Gasser ^[1] ; Jessica,Gage ^[1] ; Jessica,Grzybowski ^[1] ; Carolyn,Horton ^[1] ; Melissa,Holman ^[1] ; Claire,Watson ^[1] ; Shoji,Ichikawa ^[1] ; Changrui,Xiao ^[3] ; Dana,Mittag ^[4] ; Edwin C,Ferren ^[4] ; Erika,Levine ^[5] ; Mafalda,Barbosa ^[6] ; Joseph,Biddle ^[7] ; Laurie,Sadler ^[7] ; Melissa,Samons ^[1] ; Heather,Zimmermann ^[1] ; Marcy E,Richardson ^[1]

作者单位： Ambry Genetics, 1 Enterprise Drive, Aliso Viejo, California, 92656, USA. ^[1] Ambry Genetics, 1 Enterprise Drive, Aliso Viejo, California, 92656, USA. gvannoy@ambrygen.com. ^[2] Department of Neurology, University of California Irvine Health, Orange, CA, USA. ^[3] Levine Children's Hospital, Atrium Health, Charlotte, NC, USA. ^[4] Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ^[5] Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, NY, New York, USA. ^[6] Division of Genetics, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. ^[7]

关键词 RNA analysis Rare disease Variants of uncertain significance

DOI 10.1186/s12864-026-13094-y

PMID 42380775

发布时间 2026-07-01

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