Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.

Cherisse A MarcouBeth PitelClinton E HagenNicole J BoczekRoss A RowseyLinda B BaughnNicole L HoppmanErik C ThorlandHutton M Kearney

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Our data reveal limited diagnostic utility for duplications of uncertain significance <1 Mb. Considerations for revised reporting criteria are discussed and are applicable to CNVs detected by any genome-wide exploratory methodology, including exome/genome sequencing.

Keyphrases

genome wide
copy number
dna methylation
primary care
adverse drug
single cell
healthcare
electronic health record
cross sectional
big data
emergency department
gene expression
artificial intelligence
deep learning
drug induced
data analysis