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

J Clin Immunol. 2016 May;36 Suppl 1:68-75. doi: 10.1007/s10875-016-0260-y. Epub 2016 Mar 18.


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.

Publication types

  • Review

MeSH terms

  • Alleles
  • Computational Biology / methods
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Genome-Wide Association Study / methods
  • Genomics / methods
  • Genotype
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Mutation