Table 1 Paper selection criteria
Population | Studies in human health care |
Intervention | Whole-genome and whole-exome sequencing (any platform) |
Comparator | Other sequencing methods |
Other diagnostic methods | |
No comparator | |
Outcomes | Costs |
Clinically relevant outcome measures (diagnostic yield/successful diagnosis, time to diagnosis, change in treatment, survival rate, quality-adjusted life years) | |
Study designs | Health technology assessments, systematic reviews, meta-analyses, economic evaluations, evidence-based guidelines, conference abstracts, clinical trials |