Genome-wide cell-free DNA screening: a focus on copy-number variants.

Jill M RafalkoErica SosterSamantha CaldwellEyad AlmasriThomas WestoverVivian WeinblattPhilip Cacheris

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Genome-wide cfDNA screening identifies chromosomal abnormalities beyond the scope of traditional cfDNA screening, and the overall PPV associated with subchromosomal CNVs in cases with diagnostic outcomes was >70%.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
gene expression
adipose tissue