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

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