Uploaded October 2025 | Updated September 2026, 5 hours ago
At PacBio PRISM, Emily Farrow of Children’s Mercy Kansas City discusses the implementation of a clinical HiFi sequencing workflow to help address the lengthy diagnostic mystery in pediatric rare disease. Learn how a single, comprehensive test is helping to shorten the average 4.8-year journey to an explanation by replacing a complex series of separate assays.
Farrow details how this HiFi genome sequencing approach simultaneously evaluates a wide spectrum of genetic variation, including structural variants, repeat expansions, and methylation patterns. She shares validation data from their Revio-based workflow, highlighting high precision and 100% concordance for expansion testing. This streamlined method helps simplify the diagnostic algorithm for clinicians and laboratories.
Through compelling case studies, see how HiFi sequencing identified a complex expansion and methylation event in the DIP2B gene and resolved an inherited translocation in a single test. These examples illustrate how a HiFi-first approach can help increase diagnostic findings, helping to provide more complete answers for patients and their families.
00:00 The scope of the rare disease diagnostic challenge
01:02 Limitations of short-read genome sequencing
01:57 The growing complexity of genetic variants
02:55 The problem of sequential, multi-assay testing
04:57 Case example: The congenital hypotonia challenge
07:14 Building a research cohort with HiFi genomes
08:32 Validating a clinical HiFi workflow on Revio
10:47 Clinical validation results: Sensitivity & precision
13:02 Case study 1: DIP2B expansion & methylation
15:14 Case study 2: Detecting a complex translocation
16:37 Comparing a HiFi-first approach to standard of care
17:33 Conclusion: The path to broader HiFi adoption
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Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
At PacBio PRISM, Emily Farrow of Children’s Mercy Kansas City discusses the implementation of a clinical HiFi sequencing workflow to help address the lengthy diagnostic mystery in pediatric rare disease. Learn how a single, comprehensive test is helping to shorten the average 4.8-year journey to an explanation by replacing a complex series of separate assays.
Farrow details how this HiFi genome sequencing approach simultaneously evaluates a wide spectrum of genetic variation, including structural variants, repeat expansions, and methylation patterns. She shares validation data from their Revio-based workflow, highlighting high precision and 100% concordance for expansion testing. This streamlined method helps simplify the diagnostic algorithm for clinicians and laboratories.
Through compelling case studies, see how HiFi sequencing identified a complex expansion and methylation event in the DIP2B gene and resolved an inherited translocation in a single test. These examples illustrate how a HiFi-first approach can help increase diagnostic findings, helping to provide more complete answers for patients and their families.
00:00 The scope of the rare disease diagnostic challenge
01:02 Limitations of short-read genome sequencing
01:57 The growing complexity of genetic variants
02:55 The problem of sequential, multi-assay testing
04:57 Case example: The congenital hypotonia challenge
07:14 Building a research cohort with HiFi genomes
08:32 Validating a clinical HiFi workflow on Revio
10:47 Clinical validation results: Sensitivity & precision
13:02 Case study 1: DIP2B expansion & methylation
15:14 Case study 2: Detecting a complex translocation
16:37 Comparing a HiFi-first approach to standard of care
17:33 Conclusion: The path to broader HiFi adoption
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
