Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

Mauricio J De CastroJennifer JohnstonLeslie Biesecker

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

These results suggest that the currently accepted prevalence of McArdle disease is an underestimate and that some of the currently considered pathogenic variants are likely benign.

Keyphrases

copy number
risk factors
genome wide
electronic health record
gene expression
dna methylation
transcription factor
artificial intelligence
deep learning
circulating tumor