Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.

Meena BalasubramanianEmma HobsonMars SkaeJanine McCaugheyDavid J Stephens

Published in: Molecular genetics & genomic medicine (2019)

Access to genetic testing in OI is increasing as advances in genetic technologies decreases cost; a clinical diagnostic pathway needs to be implemented for managing variants identified by such testing.

Keyphrases

copy number
genome wide
dna methylation
gene expression
biofilm formation
escherichia coli
cystic fibrosis
pseudomonas aeruginosa
staphylococcus aureus