Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies

Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25–60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent y...

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Bibliographic Details
Main Authors: Jed J. Lye, Anthony Williams, Diana Baralle
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-12-01
Series:Frontiers in Genetics
Subjects:
RNA
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01204/full