Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

Vassilis RagoussisAlistair T PagnamentaRebecca L HainesEdoardo GiacopuzziMartin A McClatcheyJulian R SampsonMohnish SuriAlice GardhamJan-Maarten CobbenDeborah OsioAndrew E Frynull nullJenny C Taylor

Published in: Journal of medical genetics (2021)

Keyphrases

quality improvement
electronic health record
big data
machine learning
data analysis
deep learning