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Article

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

Archives of pathology & laboratory medicine - 13 Jan 2026

Schmidt Ryan J, Funke Birgit, King Ann, Halley Jaimie, Hegde Madhuri, Konnick Eric, Lebo Matthew, Mot Nicole, Santani Avni, Voelkerding Karl, Leung Marco L

Abstract excerpt

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 whether in silico mutagenesis could be used as a viable proficiency testing methodology for undiagnosed disorders...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41529835
DOI: 10.5858/arpa.2025-0116-CP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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