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September 17, 2024  |  Human genetics research

TRGT-denovo: accurate detection of de novo tandem repeat mutations

Authors: T. Mokveld, E. Dolzhenko, H. Dashnow, T. J. Nicholas, T. Sasani, B. van der Sanden, B. Jadhav, B. Pedersen, Z. Kronenberg, A. Tucci, A. J. Sharp, A. R. Quinlan, C. Gilissen, A. Hoischen, M. A. Eberle

In this preprint, researchers from PacBio, U UT, Radboud Netherlands, Mt. Sinai, Genomics England UK found that an expansion of TRGT identifies “all types of de novo TR mutations (including expansions, contractions, and compositional changes) within family trios”, allows detection of subtle variations often overlooked in vcf files, and “improves precision and specificity of de novo mutation (DNM) identification, reducing the number of de novo candidates by an order of magnitude compared to genotype-based approaches”

Journal: bioRxiv
DOI: 10.1101/2024.07.16.600745
Year: 2024

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