Key references: Next generation sequencing

  • Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017;542(7642):433–8. https://www.ncbi.nlm.nih.gov/pubmed/28135719
  • Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 2017;19(8):867–74. https://www.ncbi.nlm.nih.gov/pubmed/28125081
  • Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, et al. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med 2019;21(1):173–80. https://www.ncbi.nlm.nih.gov/pubmed/29765138
  • Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet 2016;17(1):9–18. https://www.ncbi.nlm.nih.gov/pubmed/26503795