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- W1560700952 abstract "Primary immunodeficiencies (PIDs) are inborn errors of the immune system. PIDs have been characterized immunologically for the last 60 years and genetically, principally by Sanger DNA sequencing, over the last 30 years. The advent of next‐generation sequencing (NGS) in 2011, with the development of whole‐exome sequencing in particular, has facilitated the identification of previously unknown genetic lesions. NGS is rapidly generating a stream of candidate variants for an increasing number of genetically undefined PIDs. The use of NGS technology is ushering in a new era, by facilitating the discovery and characterization of new PIDs in patients with infections and other phenotypes, thereby helping to improve diagnostic accuracy. This review provides a historical overview of the identification of PIDs before NGS, and the advances and limitations of the use of NGS for the diagnosis and characterization of PIDs." @default.
- W1560700952 created "2016-06-24" @default.
- W1560700952 creator A5029004287 @default.
- W1560700952 creator A5063790935 @default.
- W1560700952 date "2014-09-12" @default.
- W1560700952 modified "2023-10-16" @default.
- W1560700952 title "Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies" @default.
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- W1560700952 doi "https://doi.org/10.1002/eji.201444669" @default.
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