Integrated Rare Disease using Long-Read Genome Sequencing

Genomic variation beyond single nucleotide variants, including structural variation (SV), copy number variants (CNV), and repeat expansions, plays a significant role in rare disease. However, current technologies require multiple tests to fully access these variants, resulting in complex testing algorithms and the potential for missed diagnoses. Long-read genome sequencing offers the ability to accurately detect SNV, CNV, SV, and expansions with a single test. This presentation will highlight the integrated analyses offered by HiFi sequencing, using case examples demonstrating the potential for a unified test.