Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Titel:
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Auteur:
Negi, Shloka Stenton, Sarah L. Berger, Seth I. Canigiula, Paolo McNulty, Brandy Violich, Ivo Gardner, Joshua Hillaker, Todd O’Rourke, Sara M. O’Leary, Melanie C. Carbonell, Elizabeth Austin-Tse, Christina Lemire, Gabrielle Serrano, Jillian Mangilog, Brian VanNoy, Grace Kolmogorov, Mikhail Vilain, Eric O’Donnell-Luria, Anne Délot, Emmanuèle Miga, Karen H. Monlong, Jean Paten, Benedict