The importance of dynamic re-analysis in diagnostic whole exome sequencing

J Med Genet. 2017 Mar;54(3):155-156. doi: 10.1136/jmedgenet-2016-104306. Epub 2016 Nov 29.
No abstract available

Keywords: Diagnosis; bioinformatics; coverage; exome; yield.

Publication types

  • Letter

MeSH terms

  • Exome
  • Exome Sequencing* / methods
  • Exome Sequencing* / standards
  • Genetic Association Studies / methods
  • Genetic Association Studies / standards
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Genetic Testing* / standards
  • Genetic Variation
  • Humans
  • Reproducibility of Results
  • Sensitivity and Specificity