Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions
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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.
KeywordsPrimary immunodeficiency (PIDs) next generation sequencing candidate gene screening
Next generation sequencing
Primary immunodeficiency diseases
Whole genome sequencing
Whole exome sequencing
We appreciate the participation of the patients and their families; without their support, this work would not have been possible.
Compliance with Ethical Standards
M.F. performed bioinformatics analysis, results interpretation, made the figures and wrote the paper; H.A. performed experiments, analyzed results and wrote the paper; C.K. analyzed results and wrote the paper. J. Z. performed the WES and L.H. designed the project and edited the paper.
Disclosure of Conflicts of Interest
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