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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Databases
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados