New RD-Connect GPAP features implemented in collaboration with Solve-RD, EJP-RD and ELIXIR enable the diagnosis of rare disease patients with previously negative WES/WGSLeslie Matalonga,Davide Piscia,Alberto Corvo,Anastasios Papakonstantinou,Carles Hernandez-Ferrer,Steven Laurie, Carles Garcia, Luca Zalatnai,Raul Tonda,Ida Paramonov,Daniel Pico-Amador,Marcos Fernandez-Callejo,Dylan Spalding,Coline Thomas,Thomas Keane,Hanns Lochmuller,Rita Horvath,Holm Graessner,Alexander Hoischen,Ivo Gut,Sergi BeltranEUROPEAN JOURNAL OF HUMAN GENETICS(2023)引用 0|浏览47暂无评分AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要