Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for usi...

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Bibliographic Details
Main Authors: Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
Format: Online
Language:English
Published: Frontiers Media S.A. 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4903998/