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Updated: Apr 30, 2026

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Published on: October 19, 2013
Clinical Genetics and Genomics for the Immunologist: A Primer
Maxwell H Bannister1, Xiao P Peng2
1Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
None:
We are just beginning to understand the architectures, landscapes, and paradigms underlying genetically driven immune disorders (GIDs), though have already benefited greatly from the evolution of increasingly sophisticated sequencing technologies. Genetic diagnostic strategies are chosen by matching the most appropriate molecular assays and analytical tools to the relevant genetic and genomic features of a patient's differential. This review provides a practical guide for such decision-making. The authors review GID-specific paradigms, compare available and emerging genomic technologies and assays, delineate a typical clinical genomic diagnostic process, and discuss the implications of the current variant classification framework for GIDs.
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