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Why it’s time to consider WGS as first-line genetic testing
Last year CENTOGENE announced its new sequencing facility for rare hereditary disorders, which uses Illumina’s HiSeq X® sequencer. Now, some months after our journey started, our CSO Prof. Peter Bauer will explain…
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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…
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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)…
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