TRGT-denovo: accurate detection of de novo tandem repeat mutations
Tom Mokveld, Egor Dolzhenko, Harriet Dashnow, T. J. Nicholas, Thomas A. Sasani, B. van der Sanden, B. Jadhav, Brent S. Pedersen, Zev N. Kronenberg, Arianna Tucci, Andrew J. Sharp, Aaron R. Quinlan, Christian Gilissen, Alexander Hoischen, Michael A. Eberle
TRGT-denovo accurately detects de novo tandem repeat mutations in family trios, reducing false positives and improving precision compared to genotype-based methods.
bioRxiv · Jul 16, 2024 · PreprintBioinformatics