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Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions Publisher Pubmed



Fang M1, 2 ; Abolhassani H1, 3 ; Lim CK1, 4 ; Zhang J2 ; Hammarstrom L1
Authors
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Authors Affiliations
  1. 1. Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, Stockholm, -141 86, SE, Sweden
  2. 2. BGI-Shenzhen, Shenzhen, 518083, China
  3. 3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore

Source: Journal of Clinical Immunology Published:2016


Abstract

Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to date. Next Generation Sequencing (NGS) has recently become an increasingly used approach for gene identification and molecular diagnosis of human diseases. Herein we summarize the practical considerations for the interpretation of NGS data and the techniques for searching disease-related PID genes, and suggest future directions for research in this field. © 2016, Springer Science+Business Media New York.
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