Cancer Sequencing 101: How HiFi reveals genome architecture (Ep 3) @PacificBiosciences
Cancer Sequencing 101: How HiFi reveals genome architecture (Ep 3)  @PacificBiosciences
Uploaded March 2026 | Updated September 2026, 11 hours ago
Short-read sequencing can miss the structural features that drive cancer — haplotype phasing, tandem repeat expansions, and structural variants. In this final episode of Cancer Sequencing 101, learn how HiFi long-read sequencing reveals the full architecture of cancer genomes.

Samantha Kalla walks through three dimensions of cancer genomes that require long, accurate reads. Real-world examples from breast cancer and pediatric leukemia research show how HiFi sequencing detects what short reads miss.

Explore the interactive cancer body map: programs.pacb.com/l/1652/2026-03-10/45fw1y

*What you'll learn*
- Understand how phasing reveals loss of heterozygosity and distinguishes in cis from in trans mutations
- See how TRGT resolves tandem repeat expansions at single-base resolution
- Learn why HiFi reads detect structural variants and gene fusions that short reads miss

*Featured speaker*
- Samantha Kalla, Field Application Scientist (PacBio)

*Chapters*
00:00 Introduction
00:14 What is phasing?
01:01 Phasing in cancer: PTEN and LOH
01:27 In cis vs. in trans mutations
02:10 Repetitive regions and tandem repeats
02:45 HiFi reads and TRGT
03:28 Structural variants
05:12 Explore the cancer body map

*Resources*
- Interactive cancer body map: programs.pacb.com/l/1652/2026-03-10/45fw1y
- Cancer research with HiFi sequencing: pacb.com/research-focus/cancer-research
- HiFi sequencing technology: pacb.com/technology/hifi-sequencing

What's the biggest blind spot in cancer sequencing today? *Comment below.*

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#CancerGenomics #HiFiSequencing #StructuralVariants
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Cancer Sequencing 101: How HiFi reveals genome architecture (Ep 3)

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