Scientific Publication 

Underlining the Diagnostic Superiority of Genome Sequencing

Author(s): Bertoli-Avella, Aida M., MD

Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of suspected genetic diseases, CENTOGENE underlined the superiority of GS over alternative approaches in a routine diagnostic setting. The findings on this unique cohort, being the largest of its kind reported to date, were published in the European Journal of Human Genetics

Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of suspected genetic diseases, CENTOGENE underlined the superiority of GS over alternative approaches in a routine diagnostic setting. The findings on this unique cohort, being the largest of its kind reported to date, were published in the European Journal of Human Genetics


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