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J Clin Immunol. 2016 May;36 Suppl 1:68-75. doi: 10.1007/s10875-016-0260-y. Epub 2016 Mar 18.

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Author information

1
Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
2
BGI-Shenzhen, Shenzhen, 518083, China.
3
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
4
Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore.
5
Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden. lennart.hammarstrom@ki.se.

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.

KEYWORDS:

Primary immunodeficiency (PIDs); candidate gene screening; next generation sequencing

PMID:
26993986
DOI:
10.1007/s10875-016-0260-y
[Indexed for MEDLINE]

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