false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Simultaneous Analysis of 50+ Different Repeat Expa ...
Simultaneous Analysis of 50+ Different Repeat Expansions with Twist Target Enrichment and PacBio HiFi Sequencing
Back to course
Pdf Summary
Researchers from Twist Bioscience and Pacific Biosciences have developed a method to simultaneously analyze more than 50 different repeat expansions using a combination of target enrichment and PacBio HiFi sequencing. The scientists designed gene panels that target various short tandem repeats (STRs) using a proprietary algorithm. The protocol involves fragmented genomic DNA, followed by end-repair, adapter ligation, and PCR barcoding. Multiple hybridizations can be performed overnight, with up to 8 pooled samples per hybridization. Post-capture libraries undergo SMRTbell library preparation and are sequenced on a PacBio instrument. The method allows for the comprehensive coverage of 50+ different pathogenic repeats of wild type length, and the detection of individual repeat motifs and methylation levels. Clinical validation with confirmed repeat expansion is ongoing. Short-read sequencing is limited in determining the exact length, sequence composition, and methylation status of long expansions, but the current method provides a scalable and cost-efficient solution to accurately measure STRs. The researchers used the Tandem Repeat Genotyper Tool (TRGT) to benchmark the performance of the target enrichment workflow in reference samples with known repeat expansion alleles. This tool accurately characterizes tandem repeat regions and expansions. The method enables high-resolution characterization of hundreds and thousands of gene regions, including structural variation and haplotype phasing information. The study demonstrates the potential of using Twist target enrichment panels in combination with PacBio long HiFi reads for the analysis of STRs.
Asset Subtitle
Presenting Author - Tina Han, PhD; Co-Author - Holly Corbitt, PhD; Co-Author - Egor Dolzhenko, PhD; Co-Author - Nina Gonzaludo, PhD; Co-Author - Sarah Kingan, PhD; Co-Author - Po-Yuan Tung, PhD; Co-Author - Esteban Toro, PhD; Co-Author - Chad Locklear, MS;
Meta Tag
Bioinformatics
Genetic Testing
Genome sequencing
Genomic Methodologies
Methodology
NextGen Sequencing
Triplet and Other Repeats
Co-Author
Holly Corbitt, PhD
Co-Author
Egor Dolzhenko, PhD
Co-Author
Nina Gonzaludo, PhD
Co-Author
Sarah Kingan, PhD
Co-Author
Po-Yuan Tung, PhD
Co-Author
Esteban Toro, PhD
Co-Author
Chad Locklear, MS
Presenting Author
Tina Han, PhD
Keywords
repeat expansions
target enrichment
PacBio HiFi sequencing
gene panels
short tandem repeats
SMRTbell library preparation
methylation levels
clinical validation
Tandem Repeat Genotyper Tool
structural variation
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×