Uploaded August 2025 | Updated September 2026, 1 hour ago
Tandem repeats have long been a blind spot for researchers, despite their link to many neurological diseases and contributing a huge amount of variation to our genomes. In this installment of the Spotlight
on Human Genomics series, PacBio bioinformatics scientist Egor Dolzhenko introduces TRGT, the Tandem Repeat Genotyping Tool—a new approach designed to comprehensively resolve variation in tandem repeat regions.
Learn how this command-line tool leverages HiFi long-read sequencing to provide a detailed view of tandem repeats, outputting full-length allele sequences, methylation status, and repeat structure. Egor
showcases TRGT’s visualization capabilities for quality control and in-depth exploration of repeat structure and mosaicism. This talk provides a clear overview of the TRGT workflow and highlights some recent studies that have used TRGT to gain new insights into the link between tandem repeats and disease.
00:00 What are tandem repeats?
01:00 Analyzing the FMR1 repeat and mosaicism
02:48 Introducing the TRGT bioinformatics tool
04:45 Visualizing complex loci like the CNBP repeat
06:55 Key applications and research use cases
08:14 The TRGT algorithm: from HiFi reads to alleles
10:06 How to access and run the TRGT workflow
11:54 New insights from recent TRGT publications
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
Tandem repeats have long been a blind spot for researchers, despite their link to many neurological diseases and contributing a huge amount of variation to our genomes. In this installment of the Spotlight
on Human Genomics series, PacBio bioinformatics scientist Egor Dolzhenko introduces TRGT, the Tandem Repeat Genotyping Tool—a new approach designed to comprehensively resolve variation in tandem repeat regions.
Learn how this command-line tool leverages HiFi long-read sequencing to provide a detailed view of tandem repeats, outputting full-length allele sequences, methylation status, and repeat structure. Egor
showcases TRGT’s visualization capabilities for quality control and in-depth exploration of repeat structure and mosaicism. This talk provides a clear overview of the TRGT workflow and highlights some recent studies that have used TRGT to gain new insights into the link between tandem repeats and disease.
00:00 What are tandem repeats?
01:00 Analyzing the FMR1 repeat and mosaicism
02:48 Introducing the TRGT bioinformatics tool
04:45 Visualizing complex loci like the CNBP repeat
06:55 Key applications and research use cases
08:14 The TRGT algorithm: from HiFi reads to alleles
10:06 How to access and run the TRGT workflow
11:54 New insights from recent TRGT publications
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
