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Comparing the diagnostic and clinical utility of WGS and WES with standard genetic testing (SGT) in children with suspected genetic diseases: A systematic review and meta-analysis

2023-07-17

Abstract excerpt

3.0 <h4>Importance</h4> Rare genetic diseases are one of the leading causes of infant mortality worldwide. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new techniques for diagnosing genetic diseases, that classic newborn screening (NBS) fails to detect. <h4>Objective</h4> To systematically assess the diagnostic and clinical utility of WGS and WES, compared to standard genetic testi...

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Literature Corpus work: bf71faff-271c-5f7c-967c-d38a5672c0cb
DOI: 10.1101/2023.07.17.23292722

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