Article
Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.
The Journal of molecular diagnostics : JMD - 1 Mar 2018
Frans Glynis, Meert Wim, Van der Werff Ten Bosch Jutte, Meyts Isabelle, Bossuyt Xavier, Vermeesch Joris R, Hestand Matthew S
Abstract excerpt
In addition to Sanger sequencing, next-generation sequencing of gene panels and exomes has emerged as a standard diagnostic tool in many laboratories. However, these captures can miss regions, have poor efficiency, or capture pseudogenes, which hamper proper diagnoses. One such example is the primary immunodeficiency-associated gene IKBKG. Its pseudogene IKBKGP1 makes traditional capture methods aspecific. We...
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