Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Level V
Where this comes from
- Record sourced from PubMed, PMID 25981738.
- Also identified by DOI 10.1016/j.jaci.2015.02.040 and PMC identifier 5037571.
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Abstract
This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in the clinical setting will increase.
Medical subject headings
- Genome, Human
- Immunologic Deficiency Syndromes
- Mutation
- NADPH Oxidases
- Nuclear Proteins