Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
推进长读长纳米孔基因组组装和精确变异检测，以用于罕见病检测
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.01.002.
Shloka Negi ,Sarah L Stenton ,Seth I Berger ,Paolo Canigiula ,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
