Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
长读长基因组测序和变异重分析提高了神经发育障碍的诊断率
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doi:10.1101/2024.03.22.24304633
Hiatt, Susan M; Lawlor, James M J; Handley, Lori H; Latner, Donald R; Bonnstetter, Zachary T; Finnila, Candice R; Thompson, Michelle L; Boston, Lori Beth; Williams, Melissa; Nunez, Ivan Rodriguez; Jenkins, Jerry; Kelley, Whitley V; Bebin, E Martina; Lopez, Michael A; Hurst, Anna C E; Korf, Bruce R; Schmutz, Jeremy; Grimwood, Jane; Cooper, Gregory M