Article

The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)

2019-10-15

Abstract excerpt

<h4>ABSTRACT</h4> The functional validation of genetic variants of uncertain significance (VUS) found in PID patients by next-generation sequencing has traditionally been carried out in model systems that are susceptible to artefact. We use CRISPR correction of primary human T lymphocytes to demonstrate that a specific variant in an IL-6R deficient patient is causative for their condition. This methodology can be...

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Literature Corpus work: fb9ac5d6-5607-5b73-8dae-0c1f6e6c5f88
DOI: 10.1101/804732

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