| Clinical Research |
Educational Series Key Takeaways Trio WGS/WES outperforms singleton sequencing because parental data helps identify de novo variants and resolve inheritance patterns. Even with trio WGS, more than half of suspected monogenic rare disease families remain unsolved. Genome benchmarking studies show long reads add resolution in low-mappability and structural regions but underperform homopolymers remain a challenge across platforms, and that’s where Avidite Base Chemistry™ (ABC™) chemistry shows an order-of-magnitude lower error rate than every other platform tested. |
