HIGHLIGHTS
- who: April et al. from the University of Toledo, United States have published the research: ONT long-read WGS for variant discovery and orthogonal rmation of short read WGS derived genetic variants in clinical genetic testing, in the Journal: (JOURNAL)
- what: Rapid evolution of the DNA sequencing technologies encourages a paradigm shift in clinical genetic testing from phenotype driven tests focused on particular genes or panels to a comprehensive and rapid approach, aimed at minimizing the time from symptom detection to diagnosis and treatment, and at the same time reducing the patient distress and overall . . .
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