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

In silico mutagenesis represents a suitable approach for graded intended response-based proficiency testing for exome sequencing that allows laboratories to assess both analytical and interpretative components of the test.

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Publication Details

Journal
Archives of Pathology & Laboratory Medicine
Published
2026-01-13
DOI
https://doi.org/10.5858/arpa.2025-0116-cp
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

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

Ann D. King, Nicole Mot, Marco L. Leung, Jaimie Halley et al.
Archives of Pathology & Laboratory Medicine
Genomics and Rare Diseases
article

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

Ann D. King, Nicole Mot, Marco L. Leung, Jaimie Halley, Madhuri Hegde, Birgit H. Funke, Matthew Lebo, Eric Konnick, Ryan J Schmidt
article en

Abstract

In silico mutagenesis represents a suitable approach for graded intended response-based proficiency testing for exome sequencing that allows laboratories to assess both analytical and interpretative components of the test.

Archives of Pathology & Laboratory Medicine
Brigham and Women's Hospital (US), Nationwide Children's Hospital (US), Children's Hospital of Los Angeles (US), Harvard University (US), College of American Pathologists (US), Keck Hospital of USC (US), University of Washington Medical Center (US), Shriners Hospitals for Children - Tampa (US), BVI (United States) (US), Cabot (United States) (US)
Openalex Percentile: Top 89%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing — Ann D. King, Nicole Mot, et al. · Archives of Pathology & Laboratory Medicine (2026) | TGRS Research Map | TGRS