Table 1 Diagnostic yield from NGS strategies in different rare disease cohorts in key publications
From: Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
Published year | Journal | Strategy | Sequenced | Diagnostic yield (%) | Author |
|---|---|---|---|---|---|
2013 | NEJM | WES | 250 | 24.8 | Yang et al. [4] |
2014 | AJHG | WES | 264 | 55.3 | Beaulieu et al. [5] |
2015 | Nat Genet | WGS* | 156 | 21.2 | Taylor et al. [6] |
2017 | JAMA Pediatr | WES | 44 | 52.3 | Tan et al. [7] |
2017 | JAMA Pediatr | WES | 278 | 36.7 | Meng et al. [8] |
2017 | JAMA Pediatr | Critical trio WES | 63 | 50.8 | Meng et al. [8] |
2018 | NPJ Genome Med | WGS* | 42 | 42.9 | Farnaes et al. [9] |
2019 | Sci Rep | WGS* | 10 | 62.5 | Liu et al. [3] |