Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Alekhya NarravulaKathryn B GarberS Hussain AskreeMadhuri HegdePatricia L Hall

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

After this review, 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain.Genet Med 19 1, 77-82.

Keyphrases

copy number
health information
machine learning
deep learning
squamous cell carcinoma
gene expression
dna methylation
radiation therapy
social media
rectal cancer