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  1. Underlining the Diagnostic Superiority of Genome Sequencing

Underlining the Diagnostic Superiority of Genome Sequencing

Aida M. Bertoli-Avella, MD et al.
August 28, 2020

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

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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