Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology - Chinn, Ivan K.; Chan, Alice Y.; Chen, Karin; Chou, Janet; Dorsey, Morna J.; Hajjar, Joud; Jongco, Artemio M.; Keller, Michael D.; Kobrynski, Lisa J.; Kumanovics, Attila; Lawrence, Monica G.; Leiding, Jennifer W.; et al. (Journal of allergy and clinical immunology, 2020)
Keywords: Chromosomal microarray; exome sequencing; gene panel; genetic testing; genome sequencing; Mendelian; primary immunodeficiency; Sanger sequencing; variant interpretation; CADD; SIFT; WGS; WES; HPO; CNV; tools; SCID; aCGH; exome sequencing; ExAC; SNP; CMA; TfR1; variant interpretation; primary immunodeficiency; NCBI; Chromosomal microarray; PIDD; SS; Mendelian; CGD; GTEx; ACMG; ESP; AF; ddNTP; OMIM; gnomAD; gene panel; GEO; MAF; VUS; genetic testing; genome sequencing; Sanger sequencing; NGS; TGP; indel