Uploaded March 2026 | Updated September 2026, 2 hours ago
Short-read sequencing cannot fully resolve repeat expansions, structural variants, or epigenetic modifications in complex genomic regions — PureTarget HiFi sequencing addresses all three in a single assay. This webinar demonstrates real-world research results from Wisplinghoff Laboratories in Germany.
Deborah Moine from PacBio introduces the PureTarget enrichment workflow and off-the-shelf panel capabilities, then Maximilian Thelen, PhD, presents detailed case studies using PureTarget in diagnostic research. Results span Huntington's disease (HTT), fragile X syndrome (FMR1), myotonic dystrophy (DMPK), SCA27B (FGF14), alpha-thalassemia (HBA1/HBA2), spinal muscular atrophy (SMN1/SMN2), and custom HLA typing panels — all analyzed on the Revio system with SMRT Link.
*What you'll learn*
- Resolve repeat expansion length, sequence composition, interruptions, and methylation in a single PureTarget assay
- Detect carrier status for thalassemia and SMA with copy number and structural variant analysis
- Design custom CRISPR-based enrichment panels for targets like HLA-A, HLA-B, and HLA-C
- Analyze results using TRGT, Paraphase, Sawfish, and other PacBio bioinformatics tools
*Featured speakers*
- Deborah Moine, Sr Product Manager (PacBio)
- Maximilian Thelen, PhD (Wisplinghoff Laboratories, Germany)
- Matthew Seetin, Staff Scientist, Field Applications Bioinformatics Support (PacBio)
*Chapters*
00:00 Welcome and introduction
01:45 HiFi sequencing and PureTarget overview
04:28 PureTarget enrichment workflow
11:15 Repeat expansion genotyping with TRGT
21:45 Guest speaker introduction
23:03 Project goals and lab workflow at Wisplinghoff
29:38 Case study: Huntington's disease (HTT)
32:07 Case study: Myotonic dystrophy (DMPK)
34:28 Case study: Fragile X syndrome (FMR1)
38:24 Case study: SCA27B (FGF14)
42:03 Carrier panel: Thalassemia and SMA
45:28 Custom panel design with guide RNAs
48:42 Live Q&A session
*Resources*
- PureTarget enrichment: pacb.com/technology/target-enrichment/puretarget
- Revio system: pacb.com/revio
- SMRT Link analysis: pacb.com/smrt-link
- PacBio GitHub bioinformatics tools: github.com/PacificBiosciences
What complex genomic region are you working on that conventional methods struggle to resolve? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#PureTarget #HiFiSequencing #RepeatExpansion
Short-read sequencing cannot fully resolve repeat expansions, structural variants, or epigenetic modifications in complex genomic regions — PureTarget HiFi sequencing addresses all three in a single assay. This webinar demonstrates real-world research results from Wisplinghoff Laboratories in Germany.
Deborah Moine from PacBio introduces the PureTarget enrichment workflow and off-the-shelf panel capabilities, then Maximilian Thelen, PhD, presents detailed case studies using PureTarget in diagnostic research. Results span Huntington's disease (HTT), fragile X syndrome (FMR1), myotonic dystrophy (DMPK), SCA27B (FGF14), alpha-thalassemia (HBA1/HBA2), spinal muscular atrophy (SMN1/SMN2), and custom HLA typing panels — all analyzed on the Revio system with SMRT Link.
*What you'll learn*
- Resolve repeat expansion length, sequence composition, interruptions, and methylation in a single PureTarget assay
- Detect carrier status for thalassemia and SMA with copy number and structural variant analysis
- Design custom CRISPR-based enrichment panels for targets like HLA-A, HLA-B, and HLA-C
- Analyze results using TRGT, Paraphase, Sawfish, and other PacBio bioinformatics tools
*Featured speakers*
- Deborah Moine, Sr Product Manager (PacBio)
- Maximilian Thelen, PhD (Wisplinghoff Laboratories, Germany)
- Matthew Seetin, Staff Scientist, Field Applications Bioinformatics Support (PacBio)
*Chapters*
00:00 Welcome and introduction
01:45 HiFi sequencing and PureTarget overview
04:28 PureTarget enrichment workflow
11:15 Repeat expansion genotyping with TRGT
21:45 Guest speaker introduction
23:03 Project goals and lab workflow at Wisplinghoff
29:38 Case study: Huntington's disease (HTT)
32:07 Case study: Myotonic dystrophy (DMPK)
34:28 Case study: Fragile X syndrome (FMR1)
38:24 Case study: SCA27B (FGF14)
42:03 Carrier panel: Thalassemia and SMA
45:28 Custom panel design with guide RNAs
48:42 Live Q&A session
*Resources*
- PureTarget enrichment: pacb.com/technology/target-enrichment/puretarget
- Revio system: pacb.com/revio
- SMRT Link analysis: pacb.com/smrt-link
- PacBio GitHub bioinformatics tools: github.com/PacificBiosciences
What complex genomic region are you working on that conventional methods struggle to resolve? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#PureTarget #HiFiSequencing #RepeatExpansion
