Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases - 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; et al. (Journal of allergy and clinical immunology, 2016)
Keywords: 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