Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.

Autor: Marquez J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Cech JN; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Dingmann B; Division of Developmental Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Scott AI; Department of Laboratories, Seattle Children's Hospital, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Thies JM; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Mills MR; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Albert CM; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Washington, Seattle, WA.; Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute, Seattle, WA., Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Beckman E; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Bonkowski ES; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Earl DL; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Lam CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Merritt JL 2nd; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Nelson Z; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Ohlsen TJ; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Washington, Seattle, WA.; Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute, Seattle, WA., Taylor MR; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Washington, Seattle, WA.; Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute, Seattle, WA., Perlman SJ; Division of Pediatric Neurology, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Rudzinski ER; Department of Laboratories, Seattle Children's Hospital, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Sikes MC; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Waligorski N; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Wenger TL; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Mirzaa GM; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA., Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA., Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA., Sternen DL; Department of Laboratories, Seattle Children's Hospital, Seattle, WA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.

Publikováno v: Genetics in medicine open [Genet Med Open] 2024; Vol. 2. Date of Electronic Publication: 2024 Aug 09.