Identification of de novo variants from parent-proband duos via long-read sequencing
利用长读长测序技术从父母-先证者配对样本中鉴定新生变异。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2026.02.006
Boukas, Leandros; Délot, Emmanuèle C; Pitsava, Georgia; Lambert, Christine; Fanslow, Cairbre; Baybayan, Primo; Belhadj, Sami; Losic, Bojan; Harting, John; Bluske, Krista; LoTempio, Jonathan; Al-Kouatly, Huda B; Karam, Rachid; Rowell, William J; Xiao, Changrui; Vilain, Eric; Berger, Seth I