Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.

@article{Ku2012TechnologicalAI,
  title={Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.},
  author={Chee Seng Ku and Mengchu Wu and David N. Cooper and Nasheen Naidoo and Yudi Pawitan and Brendan Pang and Barry J Iacopetta and Richie Soong},
  journal={Expert review of molecular diagnostics},
  year={2012},
  volume={12 2},
  pages={159-73}
}
The potential applications of next-generation sequencing technologies in diagnostic laboratories have become increasingly evident despite the various technical challenges that still need to be overcome to potentiate its widespread adoption in a clinical setting. Whole-genome sequencing is now both technically feasible and 'cost effective' using next-generation sequencing techniques. However, this approach is still considered to be 'expensive' for a diagnostic test. Although the goal of the US… CONTINUE READING