Article
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015
Sanmann Jennifer N, Pickering Diane L, Golden Denae M, Stevens Jadd M, Hempel Thomas E, Althof Pamela A, Wiggins Michele L, Starr Lois J, Davé Bhavana J, Sanger Warren G
Abstract excerpt
PURPOSE: The identification of clinically relevant genomic dosage anomalies assists in accurate diagnosis, prognosis, and medical management of affected individuals. Technological advancements within the field, such as the advent of microarray, have markedly increased the resolution of detection; however, clinical laboratories have maintained conventional techniques for confirmation of genomic imbalances...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
