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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Novel disease gene discovered
The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a…
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Optimization of diagnostic yield
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients…
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CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.
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Genome First. Last. Fast: the One Step Approach to Genetic Testing
This webinar will cover the opportunities and challenges with clinical Whole Genome Sequencing (cWGS), value of curated digital data, re-classification and re-analysis and the utility of cWGS
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Whole Exome and Whole Genome Sequencing Course September 2019
Gaining deep insights about WES/WGS 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!