Underlining the Diagnostic Superiority of Genome Sequencing
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.