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

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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.

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Abbreviations

NGS:

Next generation sequencing

PID:

Primary immunodeficiency diseases

MDs:

Mendelian disorders

WGS:

Whole genome sequencing

WES:

Whole exome sequencing

QC:

Quality control

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Acknowledgments

We appreciate the participation of the patients and their families; without their support, this work would not have been possible.

Author information

Authors and Affiliations

  1. Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden

    Mingyan Fang, Hassan Abolhassani, Che Kang Lim & Lennart Hammarström

  2. BGI-Shenzhen, Shenzhen, 518083, China

    Mingyan Fang & Jianguo Zhang

  3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Hassan Abolhassani

  4. Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore

    Che Kang Lim

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  1. Mingyan Fang
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  4. Jianguo Zhang
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Corresponding author

Correspondence to Lennart Hammarström.

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Authorship Contributions

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.

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Fang, M., Abolhassani, H., Lim, C.K. et al. Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions. J Clin Immunol 36 (Suppl 1), 68–75 (2016). https://doi.org/10.1007/s10875-016-0260-y

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  • DOI: https://doi.org/10.1007/s10875-016-0260-y

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