Uploaded October 2025 | Updated September 2026, 1 day ago
At PacBio PRISM, Boston, Dr. Midhat Farooqi of Children's Mercy Kansas City discusses using HiFi sequencing to improve the detection of structural variants in pediatric cancer. Learn how this approach addresses the limitations of standard cytogenetic and molecular testing to better define cancer subtypes.
Dr. Farooqi details a pilot study where HiFi sequencing was applied to pediatric leukemia cases, including some that remained genetically undefined after extensive clinical testing. The talk highlights how long-read sequencing provides a more comprehensive view of the genome, detecting thousands of structural variants that are often missed by short-read methods.
Discover how this method successfully identified defining fusions in both known and previously unresolved cases, providing nucleotide-level precision. The presentation includes specific examples where HiFi sequencing uncovered complex rearrangements missed by karyotyping and FISH, demonstrating its potential to help clarify diagnosis and inform future prognosis in pediatric oncology.
00:00 Uncovering missed answers in pediatric cancer
02:00 The Genomic Answers for Kids (GA4K) initiative
04:38 Why structural variants are key in cancer diagnosis
06:32 The current challenges of SV detection
07:24 A pilot study using HiFi sequencing in leukemia
09:25 Applying the Severus tool for somatic SV calling
11:25 Case study: A cytogenetically cryptic KMT2A fusion
17:38 Case study: A B-ALL fusion missed by standard panels
19:24 Expanding the study to 30 pediatric cancer cases
21:02 Key findings on sequencing depth and tumor purity
22:23 Future directions in multiomic analysis
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
At PacBio PRISM, Boston, Dr. Midhat Farooqi of Children's Mercy Kansas City discusses using HiFi sequencing to improve the detection of structural variants in pediatric cancer. Learn how this approach addresses the limitations of standard cytogenetic and molecular testing to better define cancer subtypes.
Dr. Farooqi details a pilot study where HiFi sequencing was applied to pediatric leukemia cases, including some that remained genetically undefined after extensive clinical testing. The talk highlights how long-read sequencing provides a more comprehensive view of the genome, detecting thousands of structural variants that are often missed by short-read methods.
Discover how this method successfully identified defining fusions in both known and previously unresolved cases, providing nucleotide-level precision. The presentation includes specific examples where HiFi sequencing uncovered complex rearrangements missed by karyotyping and FISH, demonstrating its potential to help clarify diagnosis and inform future prognosis in pediatric oncology.
00:00 Uncovering missed answers in pediatric cancer
02:00 The Genomic Answers for Kids (GA4K) initiative
04:38 Why structural variants are key in cancer diagnosis
06:32 The current challenges of SV detection
07:24 A pilot study using HiFi sequencing in leukemia
09:25 Applying the Severus tool for somatic SV calling
11:25 Case study: A cytogenetically cryptic KMT2A fusion
17:38 Case study: A B-ALL fusion missed by standard panels
19:24 Expanding the study to 30 pediatric cancer cases
21:02 Key findings on sequencing depth and tumor purity
22:23 Future directions in multiomic analysis
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
