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

Key Points

• Explore the effectiveness of in silico proficiency testing for evaluating laboratories' capabilities in diagnosing undiagnosed disorders through exome sequencing.
• Conducted proficiency testing using in silico mutagenesis methods.
• Evaluated both analytical and interpretative abilities of laboratories involved in exome sequencing.
• Implemented a graded response approach to assess performance across different labs.
• Demonstrated that in silico proficiency testing is effective for laboratories using exome sequencing.
• Highlighted the capacity of lab assessments to improve diagnostics for undiagnosed disorders.