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Analysis of Tandem Repeats in Short-Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel Expansions.

Current protocols - 1 Nov 2024

Halman Andreas, Lonsdale Andrew, Oshlack Alicia

Abstract excerpt

Short tandem repeats (STRs) and variable-number tandem repeats (VNTRs) are repetitive genomic sequences seen widely throughout the genome. These repeat expansions are currently known to cause ∼60 diseases, with expansions in new loci linked to rare diseases continuing to be discovered. Genome sequencing is an important tool for detecting disease-causing variants and several computational tools have been developed...

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PMID: 39499075
DOI: 10.1002/cpz1.70010
PMCID: PMC11602959

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