Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

IMPORTANCE: Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses and clinical management. A comprehensive assessment of VUSs across many disease genes is needed to guide efforts...

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Detalles Bibliográficos
Autores principales: Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600581/
https://www.ncbi.nlm.nih.gov/pubmed/37878314
http://dx.doi.org/10.1001/jamanetworkopen.2023.39571

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