Article

A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE

2023-07-11

Abstract excerpt

<h4>Background</h4> Re-analysis of whole exome/genome data improves diagnostic yield. However, the value of re-analysis of clinical array comparative genomic hybridisation (aCGH) data has never been investigated. Case-by-case re-analysis is impractical in busy diagnostic laboratories. <h4>Methods and Results</h4> We harmonised historical post-natal clinical aCGH results from ∼16,000 patients tested via our diagnos...

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Literature Corpus work: d4fa1c39-002d-5a16-b9d3-7eec45a5f8c0
DOI: 10.1101/2023.07.02.23292123

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