Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

Shloka Negi, Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich, Joshua Gardner, Todd Hillaker, Sara M. O’Rourke, Melanie O’Leary, Elizabeth Carbonell, Christina Austin‐Tse, Gabrielle Lemire, Jillian Serrano, Brian Mangilog, Grace E. VanNoy, Mikhail Kolmogorov, Éric Vilain, Anne O’Donnell‐Luria, Emmanuèle C. Délot, Karen H. Miga, Jean Monlong, Benedict Paten