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Article

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

7 Nov 2016

Abstract excerpt

Background: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PID) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the...

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PMID: 27872624
DOI: 10.3389/fimmu.2016.00466

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