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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

15 Aug 2022

Abstract excerpt

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was performed in 38 WES-negative families derived from a 64 family Mendelian cohort that previously underwent WES....

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PMID: 35970915
DOI: 10.1038/s41431-022-01162-2

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