Article
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.
Journal of clinical immunology - 1 May 2016
Fang Mingyan, Abolhassani Hassan, Lim Che Kang, Zhang Jianguo, Hammarström Lennart
Abstract excerpt
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...
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