Related Experiment Video
Updated: Oct 24, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
Readman Chiu1, Indhu-Shree Rajan-Babu2,3,4, Jan M Friedman2,3
1Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, V5Z 4S6, Canada.
Abstract:
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders. Long-read sequencing offers an exciting avenue over conventional technologies for detecting TR expansions. Here, we present Straglr, a robust software tool for both targeted genotyping and novel expansion detection from long-read alignments. We benchmark Straglr using various simulations, targeted genotyping data of cell lines carrying expansions of known diseases, and whole genome sequencing data with chromosome-scale assembly. Our results suggest that Straglr may be useful for investigating disease-associated TR expansions using long-read sequencing.
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Sanger Sequencing
RNA-seq
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Maxam-Gilbert Sequencing
Challenges of the Maxam-Gilbert Method
The...

