Article
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016
Mandelker Diana, Schmidt Ryan J, Ankala Arunkanth, McDonald Gibson Kristin, Bowser Mark, Sharma Himanshu, Duffy Elizabeth, Hegde Madhuri, Santani Avni, Lebo Matthew, Funke Birgit
Abstract excerpt
PURPOSE: Next-generation sequencing (NGS) is now routinely used to interrogate large sets of genes in a diagnostic setting. Regions of high sequence homology continue to be a major challenge for short-read technologies and can lead to false-positive and false-negative diagnostic errors. At the scale of whole-exome sequencing (WES), laboratories may be limited in their knowledge of genes and regions that pose...
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