Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.

Context.--In silico mutagenesis can be performed to introduce variants into next-generation sequencing data. This method holds potential promise for proficiency testing since rare or novel variants can be modeled that are not found in available proficiency testing materials. Objective.--To determine...

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Publicado en:	Archives of Pathology & Laboratory Medicine Vol. 150; no. 6; pp. 432 - 438
Autores principales:	Schmidt, Ryan J., Funke, Birgit, King, Ann, Halley, Jaimie, Hegde, Madhuri, Konnick, Eric, Lebo, Matthew, Mot, Nicole, Santani, Avni, Voelkerding, Karl, Leung, Marco L.
Formato:	research tables/charts Journal Article
Publicado:	College of American Pathologists Jun2026
Acceso en línea:	Ver este registro en EBSCOhost