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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]
  1. WES whole-exome sequencing; WGS whole-genome sequencing