A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information.

Ornella VitaleRoberto PresteDonato PalmisanoMarcella Attimonelli

Published in: Molecular genetics & genomic medicine (2019)

The application of the pipeline will contribute to supporting the interpretation of pathogenicity of human mitochondrial variants by facilitating diagnosis to clinicians and researchers faced with this task.

Keyphrases

endothelial cells
oxidative stress
induced pluripotent stem cells
copy number
pluripotent stem cells
electronic health record
escherichia coli
machine learning
cystic fibrosis
health information
deep learning
social media
artificial intelligence