A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.

@article{Jarvis2005ANM,
  title={A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.},
  author={Michael A. Jarvis and Ramaswamy K. Iyer and Laurina O Williams and Walter W. Noll and Kirk Thomas and Milhan Telatar and Wayne W. Grody},
  journal={The Journal of molecular diagnostics : JMD},
  year={2005},
  volume={7 2},
  pages={247-51}
}
The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived mutation-positive samples could be surmounted if it were possible to construct artificial samples containing mutations of interest that would sufficiently resemble natural human samples. Such samples could then function as acceptable and realistic… CONTINUE READING