Clinical application of whole-genome sequencing in patients with primary immunodeficiency. uri icon

Overview

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.

publication date

  • May 14, 2015

Research

keywords

  • Genome, Human
  • Immunologic Deficiency Syndromes
  • Mutation
  • NADPH Oxidases
  • Nuclear Proteins

Identity

PubMed Central ID

  • PMC5037571

Scopus Document Identifier

  • 84939578869

Digital Object Identifier (DOI)

  • 10.1016/j.jaci.2015.02.040

PubMed ID

  • 25981738

Additional Document Info

volume

  • 136

issue

  • 2