Article

ATaRVa: Analysis of Tandem Repeat Variation from Long-Read Sequencing data

2025-05-16

Abstract excerpt

Tandem Repeats (TRs) are contiguous repetitions of DNA motifs whose variations modulate key cellular processes and traits. Their expansions are causally linked to over 70 neurological disorders in humans. Historically, genotyping TRs has been challenging due to their low sequence complexity and allele lengths exceeding typical short-read sequencing capabilities. While long-read sequencing improves TR genotyping by...

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Literature Corpus work: 8bd86468-a0e1-51bd-986c-37b16559843a
DOI: 10.1101/2025.05.13.653434

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