ASHG 2023 | 2023
T. Mokveld1, E. Dolzhenko1, H. Dashnow2, B. van der Sanden3, B. Pedersen2, Z. Kronenberg1, T. Nicholas2, C. Fanslow1, C. Lambert1, N. Koundinya4, W. Harvey4, K. Hoekzema4, J. Knuth4, G. Garcia4, K. M. Munson4, B. Jadhav5, A. J. Sharp5, A.Tucci6, S. Watkins2, D. W. Neklason2, A. R. Quinlan2, C. Gilissen3, A. Hoischen3, E. E. Eichler4, M. A. Eberle1; 1) PacBio, Menlo Park, CA, 2) Univ. of Utah, Salt Lake City, UT, 3) Radboudumc, Nijmegen, Netherlands, 4) Univ. of Washington, Seattle, WA, 5) Icahn School of Medicine at Mount Sinai, New York, NY, 6) Genomics England, London, UK
TRs are implicated in Mendelian disease, cancer, and complex traits, and are a major source of structural variants. Standard approaches have limitations in effectively analyzing these regions. Utilizing PacBio HiFi sequencing data, TRGT1 and TRVZ1 were developed to: Estimate repeat lengths and mosaicism, analyze sequence composition, measure CpG methylation in repeats, support repeats up to 10Kb and visualize tandem repeats.