Article

Ribbit: Accurate identification and annotation of complex tandem repeat sequences in genomes

2025-02-08

Abstract excerpt

DNA tandem repeats (TRs) are crucial for genomic functions like protein binding, chromatin modulation, splicing, and gene regulation. Abnormal length variations in TRs, especially expansions, are associated with over 60 neurodegenerative diseases. The function and stability of a TR locus is dependent on its sequencing composition and purity. Recent studies report the disease-causing propensity of non-canonical mot...

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Literature Corpus work: 1e55eb2e-c5a3-59a8-a3de-c8eb52df5fe8
DOI: 10.1101/2025.02.06.636828

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