Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.

@article{Hong2014ApplicationOV,
  title={Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.},
  author={Y B Hong and Jinsei Jung and S-C Jung and Ki Wha Chung and B-O Choi},
  journal={Clinical genetics},
  year={2014},
  volume={86 3},
  pages={298-9}
}
To the Editor : In contrast with traditional genetic approaches for the isolation of disease-causing mutations, which have taken considerable time and effort, recent advent of next-generation sequencing (NGS) has broadened and accelerated the genetic analysis of various disorders. For example, a mutation in the TRK-fused gene, which causes hereditary motor… CONTINUE READING