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

doi:10.1007/s10875-016-0260-y

Review

. 2016 May:36 Suppl 1:68-75.

doi: 10.1007/s10875-016-0260-y. Epub 2016 Mar 18.

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

Mingyan Fang^{1

2}, Hassan Abolhassani^{1

3}, Che Kang Lim^{1

4}, Jianguo Zhang², Lennart Hammarström⁵

Affiliations

¹ Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
² BGI-Shenzhen, Shenzhen, 518083, China.
³ Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore.
⁵ Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden. lennart.hammarstrom@ki.se.

PMID: 26993986
DOI: 10.1007/s10875-016-0260-y

Review

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

Mingyan Fang et al. J Clin Immunol. 2016 May.

. 2016 May:36 Suppl 1:68-75.

doi: 10.1007/s10875-016-0260-y. Epub 2016 Mar 18.

Authors

Mingyan Fang^{1

2}, Hassan Abolhassani^{1

3}, Che Kang Lim^{1

4}, Jianguo Zhang², Lennart Hammarström⁵

Affiliations

¹ Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
² BGI-Shenzhen, Shenzhen, 518083, China.
³ Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore.
⁵ Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden. lennart.hammarstrom@ki.se.

PMID: 26993986
DOI: 10.1007/s10875-016-0260-y

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.

Keywords: Primary immunodeficiency (PIDs); candidate gene screening; next generation sequencing.

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References

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[1] Haematologica. 2010 Jul;95(7):1207-10 - PubMed

[2] Haematologica. 2010 Jul;95(7):1207-10 - PubMed

[3] Mayo Clin Proc. 2009;84(1):16-22 - PubMed

[4] Mayo Clin Proc. 2009;84(1):16-22 - PubMed

[5] Nat Methods. 2014 Sep;11(9):935-7 - PubMed

[6] Nat Methods. 2014 Sep;11(9):935-7 - PubMed

[7] J Investig Allergol Clin Immunol. 2013;23(5):302-8 - PubMed

[8] J Investig Allergol Clin Immunol. 2013;23(5):302-8 - PubMed

[9] PLoS One. 2010 Oct 26;5(10):e13630 - PubMed

[10] PLoS One. 2010 Oct 26;5(10):e13630 - PubMed

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

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

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