Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing

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...

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Bibliographic Details
Main Authors:	Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2016-11-01
Series:	Frontiers in Immunology
Subjects:	Primary Immunodeficiencies whole exome sequencing genetic diagnosis genotype-phenotype correlation Targeted next-generation sequencing
Online Access:	http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00466/full

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http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00466/full

Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing

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