Article
Resolving the unsolved: Comprehensive assessment of tandem repeats at scale
2023-05-14
Abstract excerpt
Tandem repeat (TR) variation is associated with gene expression changes and over 50 rare monogenic diseases. Recent advances in sequencing have enabled accurate, long reads that can characterize the full-length sequence and methylation profile of TRs. However, despite these advances in sequencing technology, computational methods to fully profile tandem repeats across the genome do not exist. To address this gap,...
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Identifiers and source
- Literature Corpus work
- 37bb729a-98ba-5c37-96a1-d7da6477bf65
- DOI
- 10.1101/2023.05.12.540470