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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Diagnostic Relevance of Intronic Variants
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly…
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Utilization of CentoMD® in Scientific Settings
The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse database - CentoMD® - is frequently encountered by academic consortia in need of such information. A…
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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).