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...
| Publicado en: | Archives of Pathology & Laboratory Medicine Vol. 150; no. 6; pp. 432 - 438 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
College of American Pathologists
Jun2026
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| Acceso en línea: | Ver este registro en EBSCOhost |