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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Characterization of an Ultra-Rare Disorder
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of…
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An Unorthodox Disease Mechanism
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of…
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Disease relevance of alternative splicing
Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They…
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Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of…
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Novel Genetic Cause for Neurodevelopmental Defects
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at…