Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community
Anthony Simon, Adi Cohen Golan, Atar Lev, Tali Stauber, Ortal Barel, Ido Somekh, Christoph Klein, Omar AbuZaitun, Eran Eyal, Nitzan Kol, Ekrem Ünal, Ninette Amariglio, Gideon Rechavi, Raz Somech
Topics & Concepts
ConsanguinityExome sequencingPrimary immunodeficiencyMedicinePediatricsCohortNewborn screeningGenetic testingGeneticsBiologyPhenotypeInternal medicineGeneDiseaseImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research AdvancesGenomics and Rare Diseases