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



Fang M^{1, 2} ; Abolhassani H^{1, 3} ; Lim CK^{1, 4} ; Zhang J² ; Hammarstrom L¹
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.