Article

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

2022-04-18

Abstract excerpt

<h4>Background</h4> D e novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). <h4>Methods</h4> This study explored the potential added value of systematic assessment of DNVs in a retrospective cohort of 123 patients with a suspected sporadic IEI who underwent patient-parent trio-based WE...

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Literature Corpus work: 90a6814c-0258-5389-a8ad-38f7d1ccbaf0
DOI: 10.1101/2022.03.30.22272929

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