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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What You Need to Know about Carrier Screening
Carrier screening is a predictive genetic testing, designed for future parents. Would you like to learn more and understand it better? Watch our recorded webinar about CentoScreen®: "What you need to know about expanded carrier screening"
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Whole/Clinical Exome Sequencing Course April 2018
Gaining deep insights about WES/CES workflow from lab to report and benefit from experiences via hands-on courses supervised by our experts. Take the unique opportunity to discuss with our experts and exchange with others from the field!
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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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Clinical Exome Sequencing Targets Genes Associated with All Known Clinical Phenotypes
Watch our recorded webinar, “Clinical Exome Sequencing targets genes associated with all known clinical phenotypes to achieve high diagnostic accuracy” and find out how clinical utility meets patient affordability.
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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).