日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

eDiVA——用于临床诊断的致病变异分类和优先级排序

Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier; Ossowski, Stephan

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。

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

OncoScape: Exploring the cancer aberration landscape by genomic data fusion

OncoScape:通过基因组数据融合探索癌症异常图谱

Schlicker, Andreas; Michaut, Magali; Rahman, Rubayte; Wessels, Lodewyk F A