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Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology

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Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology

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 sequences and methylation levels of specified TRs from PacBio HiFi sequencing data.

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Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology

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Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology

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