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 lipid metabolism causes congenital disease
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study,…
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New genetic cause of severe heart disease
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE. Functional data that were contributed by academic collaborators…
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Fetal exome sequencing in a real world setting
Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found to be impacted by (i) presence of ultra-sound abnormalities, (ii) positive family history, and (iii)…
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Optimizing genetic diagnostics in childhood neurological disease
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes,…
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Gaucher Disease – Update on diagnosing and therapy monitoring
Knowing Gaucher Disease (GD), the most common lysosomal storage disorder, is crucial when being faced with unspecific abnormalities in many organs like brain, liver, spleen and bones. Right at Gaucher Disease Awareness Month, we will host the next webinar “Gaucher Disease: beyond the paradigms based…