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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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…
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An Extended Intellectual Disability Phenotype
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.
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CentoWebinar – 'Um olhar sobre o poder do sequenciamento completo do genoma'
Ao longo do webinar, nosso convidado Dr. Salmo Raskin, fornecerá uma visão geral do sequenciamento completo do genom (WGS) e compartilhará as percepções de nosso estudo mais recente - revelando autilidade cl[inica do WGS.
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Whole Exome and Whole Genome Sequencing Course November 2020 - cancelled
Don’t miss out on our in-demand CentoAcademy® course, where attendees gain deep insights into innovative WES/WGS workflows via hands-on courses supervised by CENTOGENE’s world-class experts
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Defective mRNA Translation and Neurodegeneration
Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival.…