Published in:
01-05-2016
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions
Authors:
Mingyan Fang, Hassan Abolhassani, Che Kang Lim, Jianguo Zhang, Lennart Hammarström
Published in:
Journal of Clinical Immunology
|
Special Issue 1/2016
Login to get access
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.