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Review
. 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

Mingyan Fang  1   2 , Hassan Abolhassani  1   3 , Che Kang Lim  1   4 , Jianguo Zhang  2 , Lennart Hammarström  5
Affiliations
Review

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

Mingyan Fang et al. J Clin Immunol. 2016 May.

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.

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