Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

• Published in: Journal of allergy and clinical immunology Vol. 137; no. 6; pp. 1780 - 1787
• Main Authors: Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2016; Elsevier Limited
• Subjects: Allergy and Immunology; Ataxia; Computational Biology; Defects; diagnosis; Disease; DNA Copy Number Variations; DNA Mutational Analysis; Genes; genetic; Genetic counseling; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genome-Wide Association Study; Genomes; High-Throughput Nucleotide Sequencing; Humans; Immunodeficiency; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Laboratories; Mutation; next-generation sequencing; Patients; Polymorphism, Single Nucleotide; primary immunodeficiency; Saudi; Studies; targeted; variants; Workflow; genetic; WGS; WES; next-generation sequencing; Immunodeficiency; diagnosis; CNV; PID; variants; SCID; mutation; Saudi; SNP; ePCR; HGMD; targeted; primary immunodeficiency; SNV; NGS; indel; CID; Copy number variation; Combined immunodeficiency; Primary immunodeficiency disease; Insertion/deletion; Single nucleotide variant; Whole-exome sequencing; Human Gene Mutation Database; Whole-genome sequencing; Severe combined immunodeficiency disease; Single nucleotide polymorphism; Emulsion PCR

Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive way of concurrently screening a large number of PID genes. However, its validity and cost-effectiveness require verificati...