Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Omar HikmatKarin NaessMartin EngvallClaus KlingenbergMagnhild RasmussenChantal Me TallaksenEylert BrodtkorbElsebet OstergaardI F M de CooLeticia Pias-PeleteiroPirjo IsohanniJohanna UusimaaNiklas DarinShamima RahmanLaurence Albert Bindoff

Published in: Journal of inherited metabolic disease (2020)

Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course.

Keyphrases

machine learning
deep learning
big data
electronic health record
case control