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September 17, 2024  |  Human genetics research

A familial, telomere-to-telomere reference for human de novomutation and recombination from a four-generation pedigree

Authors: David Porubsky, Harriet Dashnow, Thomas A. Sasani, Glennis A. Logsdon, Pille Hallast, Michelle D. Noyes, Zev N. Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J. Steely, Andrea Guarracino, Egor Dolzhenko, William T. Harvey, William J. Rowell, Kirill Grigorev, Thomas J. Nicholas, Keisuke K. Oshima, Jiadong Lin, Peter Ebert, W. Scott Watkins, Tiffany Y. Leung, Vincent C.T. Hanlon, Sean McGee, Brent S. Pedersen, Michael E. Goldberg, Hannah C. Happ, Hyeonsoo Jeong, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan, Yanni Wang, Jordan Knuth, Gage H. Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D. Smith, Shawn Levy, Christopher E. Mason, Erik Garrison, Peter M. Lansdorp, Deborah W. Neklason, Lynn B. Jorde, Aaron R. Quinlan, Michael A. Eberle, Evan E. Eichler

In a preprint led by UW and 18 additional institutions, researchers unlock the secrets of genetic inheritance across four generations using HiFi sequencing. This study marks “the most comprehensive, publicly available “truth set” of all classes of genomic variants”

Journal: bioRxiv
DOI: 10.1101/2024.08.05.606142
Year: 2024

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