title: Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.
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.
authors.affiliation: Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: Mingyan
authors.initials: M
authors.lastname: Fang
authors.affiliation: Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.|Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Abolhassani
authors.affiliation: Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.|Department of Clinical Research, Singapore General Hospital, Singapore, 169856, Singapore.
authors.forename: Che Kang
authors.initials: CK
authors.lastname: Lim
authors.affiliation: BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden. lennart.hammarstrom@ki.se.
authors.forename: Lennart
authors.identifier: 0000-0002-8635-9609
authors.initials: L
authors.lastname: Hammarström
mesh_terms: D000483:Alleles; D019295:Computational Biology / Q000379:methods; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D055106:Genome-Wide Association Study / Q000379:methods; D023281:Genomics / Q000379:methods; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D009154:Mutation
keywords: Primary immunodeficiency (PIDs); candidate gene screening; next generation sequencing