A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield
William Kermode, Dianne De Santis, Linh Truong, Erika Della Mina, Sam Salman, Grace Thompson, David Nolan, Richard Loh, Dominic Mallon, Andrew McLean‐Tooke, Mina John, Stuart G. Tangye, Michael O’Sullivan, Lloyd D’Orsogna
Topics & Concepts
Common variable immunodeficiencyAmpliconBiologyGeneticsMolecular diagnosticsPenetranceIn silicoCopy-number variationPrimary immunodeficiencyComputational biologyGenePhenotypeGenomePolymerase chain reactionImmune systemAntibodyImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research AdvancesNeurogenetic and Muscular Disorders Research