Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
荷兰基因组诊断实验室通过数据共享,加快并改进了变异解读,提高了准确性。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23896
Fokkema, Ivo F A C; van der Velde, Kasper J; Slofstra, Mariska K; Ruivenkamp, Claudia A L; Vogel, Maartje J; Pfundt, Rolph; Blok, Marinus J; Lekanne Deprez, Ronald H; Waisfisz, Quinten; Abbott, Kristin M; Sinke, Richard J; Rahman, Rubayte; Nijman, Isaäc J; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J G; Charbon, Bart; Saris, Jasper J; den Dunnen, Johan T; Laros, Jeroen F J; Swertz, Morris A; van Gijn, Marielle E