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Article

Utility of next generation sequencing in clinical primary immunodeficiencies.

Current allergy and asthma reports - 1 Oct 2014

Raje Nikita, Soden Sarah, Swanson Douglas, Ciaccio Christina E, Kingsmore Stephen F, Dinwiddie Darrell L

Abstract excerpt

Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25149170
DOI: 10.1007/s11882-014-0468-y
PMCID: PMC4582650

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