Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory

@article{Ho2016EstablishRF,
  title={Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory},
  author={Cheng-Mao Ho and Hsi-Yuan Huang and Chin-An Yang and Ya-Sian Chang and Chien-Yu Lin and Jan-Gowth Chang},
  journal={2016 IEEE 16th International Conference on Bioinformatics and Bioengineering (BIBE)},
  year={2016},
  pages={390-392}
}
Background: Next-generation sequencing (NGS) testing has two analytical processes, wet bench and bioinformatics process. Exome sequencing covers about 20000 human protein-coding gene sequences. Since these sequences are only 2% of human genome, but can predict 85% of human gene related diseases, whole exome sequencing is the most cost-effective test to… CONTINUE READING