Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.
Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of 15 years on average. The advent of electronic health records (EHR) data and machine learning (ML) may improve the timely recognition of rare diseases like AHP. However, prediction models can be difficult to train given the limited case numbers, unstructured EHR data, and selection biases intrinsic to healthcare delivery. We sought to train [...]
Author(s): Bhasuran, Balu, Schmolly, Katharina, Kapoor, Yuvraaj, Jayakumar, Nanditha Lakshmi, Doan, Raymond, Amin, Jigar, Meninger, Stephen, Cheng, Nathan, Deering, Robert, Anderson, Karl, Beaven, Simon W, Wang, Bruce, Rudrapatna, Vivek A
DOI: 10.1093/jamia/ocae141