Targeted NGS: a cost effective approach to molecular diagnosis of PIDs

Targeted NGS: a cost effective approach to molecular diagnosis of PIDs

Background: Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for PID patients using a phenotype-based approach is often complex, expensive, and not always successful. Next-generation sequencing (NGS) methods offer...

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Bibliographic Details
Main Authors: Jennifer eStoddard, Julie eNiemela, Thomas Arthur Fleisher, Sergio eRosenzweig
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-11-01
Series:Frontiers in Immunology
Subjects:
Next-generation sequencing
diagnosis
massively parallel sequencing
mutation analysis
Sanger sequencing
SNV
Online Access:http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00531/full

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