Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants

Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in establ...

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Detalles Bibliográficos
Autores principales: Schilter, Kala F, Dubay, Sarah, Stachowiak, Matt, Kaplan, Alysia, Stauffenger, Abby, Reddi, Honey V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259170/
https://www.ncbi.nlm.nih.gov/pubmed/37313115
http://dx.doi.org/10.1177/11772719231178618
Descripción
Sumario:Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in established guidelines, association with clinical significance such as FDA approved drugs and clinical trials, and finally comprehensive reporting. This study documents our experience with the customization and implementation of a software platform that facilitates these requirements for effective reporting of somatic variants.

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