Article

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

2026-03-03

Abstract excerpt

<h4>Background</h4> Tandem repeats (TRs) play critical roles in human disease and phenotypic diversity but are among the most challenging classes of genomic variation to measure accurately. While it is possible to identify TR expansions using short-read sequencing, these methods are limited because they often cannot accurately determine repeat length or sequence composition. Long-read sequencing (LRS) has the pot...

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Literature Corpus work: 25c0bc63-0517-541e-8dd8-0c3a6d7bc383
DOI: 10.64898/2026.02.28.708646

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