Resolving the unsolved: Comprehensive assessment of tandem repeats at scale
Egor Dolzhenko, Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev N. Kronenberg, Matt Christopher Danzi, Warren Cheung, Chengpeng Bi, Emily Farrow, Aaron M. Wenger, Verónica Martínez‐Cerdeño, Trevor Bartley, , Michael A. Eberle
The paper introduces TRGT, a tool for tandem repeat genotyping, and a database of 937,122 TRs across 100 genomes, achieving high concordance and detecting repeat expansions, methylation, and mosaicism.
bioRxiv · May 12, 2023 · PreprintGenomics