Identifying large-scale insertions, deletions, and inversions that standard tests might overlook.
Crucial for diagnosing neurological disorders often missed by focused exome panels. Case Study: Overcoming the "Diagnostic Odyssey"
Report GP1613-02122020 serves as a benchmark for the transition toward "total-genome" visibility. As computational power continues to scale, the "savage" or exhaustive approach will become the standard, ensuring that the entire spectrum of disease-causing mutations—from single nucleotide variants to complex structural changes—can be identified with a single, definitive test.