Whole Exome Sequencing – CentoXome®
Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, whole exome sequencing examines thousands of genes simultaneously.
Articles on Whole Exome Sequencing
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Validation of Gene Causality for Neurological Disorders
Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting
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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 well-defined. We applied very low thresholds in WES-associated variant calling to also…
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Triple Diagnosis Established by Whole Exome Sequencing
Whole exome sequencing (WES) was requested to determine the possible genetic cause of symptoms (table 1, figure 1) for a 37-year-old Lebanese patient. WES performed on Illumina Platform only for the index (Nextera Rapid Capture Exome Kit, ~95% of target bases were covered at ≥10x).
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Unmet Needs in Human Genomic Variant Interpretation
The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent interpretation can produce either a negative or a positive effect, depending on the quality of the…