Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants
Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine Randall Paschal, Jenny M. Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily S. Bonkowski, , Evan E. Eichler
This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.
bioRxiv · Nov 3, 2020 · PreprintGenomics