Study | Publication date | Number of subjects | Age (mean or median) | Clinical indication | Technology | Diagnosis rate (%) | |
Soden et al35 | Sci Trans Med | Oct 2014 | 100 | 7 years | NDD | GS R-GS ES | 47 73 40 |
Lee et al97 | JAMA | Nov 2014 | 814 | >18 years | Any | ES | 26 |
Yang et al98 | JAMA | Nov 2014 | 2000 | 6 years | DD | ES | 25.2 |
Wright et al99 | Lancet | Dec 2014 | 1133 | 6 years | NDD | ES | 27 |
Gilissen et al64 | Nature | Jul 2014 | 50 | >18 years | ID | GS | 42 |
Willig et al61 | Lancet Respir Med | May 2015 | 35 | >4 months | Any | R-GS SCP | 57 9 |
Petrikin et al86 | SEM Perinatol | Dec 2015 | 35 | 26 days | Any | GS | 57 |
Stavropoulos et al65 | NPJ Genom Med | Jan 2016 | 110 | >18 years | NDD | GS CMA CMA+TGS | 34 8 13 |
Rump et al36 | BMC Med Genom | Feb 2016 | 38 | 10 years | ID | ES | 29 |
Vissers et al76 | Genet Med | Mar 2017 | 150 | >18 years | NDD | ES SCP | 29.3 7.3 |
Lionel et al44 | Genet Med | Aug 2017 | 103 | >18 years | Any | GS | 41 |
Petrikin et al66 | NPJ Genom Med | Feb 2018 | 65 | >4 months | Any | R-GS Standard tests | 31 3 |
van Diemen et al100 | Paediatrics | Oct 2017 | 23 | >12 months | Any | R-GS | 30 |
Farnaes et al73 | NPJ Genome Med | Apr 2018 | 42 | >4 months | Any | R-GS Standard tests | 43 10 |
CMA, chromosomal microarray;DD, developmental delay;ES, exome sequencing; GS, genome sequencing;ID, intellectual disability;NDD, neurodevelopmental disorder;R-GS, rapid-genome sequencing;SCP, standard care pathway;TGS, targeted gene sequencing.