Article

Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity

2022-11-23

Abstract excerpt

<title>Abstract</title> <p>Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. Thus, we sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA) in children with suspected or known IEI. <h4>Methods:</h4> We performed exome seq...

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Literature Corpus work: d4a868eb-4629-5a91-9ef1-567cbb0c60cc
DOI: 10.21203/rs.3.rs-2211010/v1

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