Article
Characterization and visualization of tandem repeats at genome scale.
Nature biotechnology - 1 Oct 2024
Dolzhenko Egor, English Adam, Dashnow Harriet, De Sena Brandine Guilherme, Mokveld Tom, Rowell William J, Karniski Caitlin, Kronenberg Zev, Danzi Matt C, Cheung Warren A, Bi Chengpeng, Farrow Emily, Wenger Aaron, Chua Khi Pin, Martínez-Cerdeño Verónica, Bartley Trevor D, Jin Peng, Nelson David L, Zuchner Stephan, Pastinen Tomi, Quinlan Aaron R, Sedlazeck Fritz J, Eberle Michael A
Abstract excerpt
Tandem repeat (TR) variation is associated with gene expression changes and numerous rare monogenic diseases. Although long-read sequencing provides accurate full-length sequences and methylation of TRs, there is still a need for computational methods to profile TRs across the genome. Here we introduce the Tandem Repeat Genotyping Tool (TRGT) and an accompanying TR database. TRGT determines the consensus...
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