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Article

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences.

Genome biology - 13 Aug 2021

Chiu Readman, Rajan-Babu Indhu-Shree, Friedman Jan M, Birol Inanc

Abstract excerpt

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...

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Identifiers

PMID: 34389037
DOI: 10.1186/s13059-021-02447-3
PMCID: PMC8361843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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