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Diagnostic Yield and Utility of Clinical Exome Sequencing
Clinical exome sequencing (CES) is sequencing and analysis of the exons of only clinically-relevant genes compared to sequencing the exons of all 20,000 genes in whole exome sequencing (WES).
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Development of an evidence-based algorithm in WES-based diagnostics
Development of an evidence-based algorithm that optimizes sensitivity and specificity in WES-based diagnostics of a clinically heterogeneous patient population. Sensitivity of whole exome sequencing (WES) is not…
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently,…