Article

Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for detecting foetal structural anomalies in X-linked disorders

2023-02-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Whole-exome sequencing (WES) is a strong diagnostic tool for foetal structural anomalies, but the causative gene for more than half the anomalies have not been identified. Therefore, improving the diagnostic yield based on WES data is essential. <h4>Methods</h4> First, 138 foetuses with structural anomalies were assessed using conventional WES and copy number variation (CNV) a...

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Literature Corpus work: efce1c0d-b677-5cc6-8c76-0bee516ff94e
DOI: 10.1101/2023.02.05.23285039

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Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for detecting foetal structural anomalies in X-linked disordersDOI 10.1101/2023.02.05.23285039Read

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