Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previou...

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Main Authors: Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, Gigliola Di Matteo
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiencies
Next Generation Sequencing
gene panels
Ion Torrent
Haloplex
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full

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