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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The First Missense Pathogenic Variant in the KAT6A Gene
CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”
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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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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…