- Characteristics of the five conditions under review
- Excluded studies
- Included studies for Q2 (prevalence of genetic variants in those with biochemical or biochemical and clinical features of each condition)
- Data extraction of 14 studies included in the review of genomic studies of newborn cohorts reporting penetrance for pathogenic variants
- Data extraction of 86 studies included in the review of cost-effectiveness evaluations of WGS and WES
Supplementary material can be found on the NIHR Journals Library report page (https://doi.org/10.3310/DJRF1124).
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