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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 genetic and genomic medicine Title + abstract only
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3.0ImportanceRare 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. ObjectiveTo systematically assess the diagnostic and clinical utility of WGS and WES, compared to standard genetic testing (SGT), in children with suspected genetic diseases, and discuss its impact on the expansion of NBS. ...

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