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Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Publication

Date: 2nd July 2021 | Source: The American Journal of Human Genetics

Authors: Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Jenny Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily S. Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne V. Hing, Margaret P. Adam, Angela Sun, Christina Lam, Irene Chang, University of Washington Center for Mendelian Genomics, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler.

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