Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next‐generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard 5‐tier scale. To reduce time spent on data interpretation and inc...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Databases
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900155/
https://ncbi.nlm.nih.gov/pubmed/31433103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23896
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