Whole genome sequencing (WGS) provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available. It is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.
Articles on Whole Genome Sequencing
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
Based on the ambition to provide maximum diagnostic yield, CENTOGENE offers follow up of negative WES/WGS reports in a research setting. Recently, this approach resulted in the association of a special form of congenital hydrocephalus with bi-allelic inactivation of the DLG5 gene. The finding, which…
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WES and WGS Course February 2019
Gaining deep insights into whole genome sequencing workflow from lab to report and benefit from experiences via hands-on courses supervised by our experts.
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Is Pancreatitis a Genetic Disease?
Pancreatitis is a common cause of life-threatening abdominal symptoms and pain. If diagnosed, especially in the young, the question as to the etiology arises. Join our guest speaker, Prof. Matthias Löhr, and co-host Prof. Peter Bauer, as they examine how genetic markers can indicate different…
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Whole Genome Sequencing Course September 2018
Gaining deep insights into whole genome sequencing workflow from lab to report and benefit from experiences via hands-on courses supervised by our experts.
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Variant Reclassification: When, Why, How
Discover how CENTOGENE’s variant reclassification enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis.