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STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data.

Human mutation - 1 Jul 2022

Halman Andreas, Dolzhenko Egor, Oshlack Alicia

Abstract excerpt

Expansions of short tandem repeats (STRs) have been implicated as the causal variant in over 50 diseases known to date. There are several tools which can genotype STRs from high-throughput sequencing (HTS) data. However, running these tools out of the box only allows around half of the known disease-causing loci to be genotyped. Furthermore, the genotypes estimated at these loci are often underestimated with...

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PMID: 35395114
DOI: 10.1002/humu.24382
PMCID: PMC9541159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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