Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies
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DOI: 10.3389/fgene.2019.01204
Abstract: 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… read more here.
Keywords: yield primary; improving diagnostic; diagnostic yield; rna gap ... See more keywords