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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Genetic Cause of Impaired Neurodevelopment
Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with disturbed neurodevelopment was observed as having the gene knocked out. The finding was published in…
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A Rare Genetic Disease in Which Symptoms Naturally Improve
While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a result of identifying three additional patients, scientists at CENTOGENE have now been able to…
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Webinar de CentoGenome - ‘Una mirada al poder de la Secuenciación del Genoma Completo’
Acompáñenos en nuestro CentoWebinar ‘Una mirada al poder de la secuenciación del genoma completo.’ A lo largo del webinar, nuestro presentador el Dra. Aida M. Bertoli-Avella, MD le proporcionará una visión general sobre la Secuenciación del Genoma Completo (WGS).
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CentoGenome Webinar - ‘A Look Into the Power of Whole Genome Sequencing’
Throughout the webinar, Prof. Peter Bauer will provide you with an overview of Whole Genome Sequencing (WGS) and share insights from our latest study – unlocking the clinical utility of WGS.
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Disturbed Growth Signaling Linked to a Novel Disorder
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be…