Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
长读长基因组测序可提高儿童神经系统疾病的诊断率。
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01596-5
Ek, Marlene; Kvarnung, Malin; Ten Berk de Boer, Esmee; La Fleur, Linnéa; Ljöstad, Lena; Lyander, Anna; Faergeman, Søren Lejsted; Drue, Simon Opstrup; Thonberg, Håkan; Nordgren, Ann; Soller, Maria Johansson; Wirta, Valtteri; Eisfeldt, Jesper; Lindstrand, Anna
