Lessons learned from the DFNA37 gene discovery odyssey

@article{Talebizadeh2018LessonsLF,
  title={Lessons learned from the DFNA37 gene discovery odyssey},
  author={Zohreh Talebizadeh},
  journal={Genetics in Medicine},
  year={2018},
  pages={1-2}
}
  • Z. Talebizadeh
  • Published 10 December 2018
  • Medicine, Biology
  • Genetics in Medicine
Despite significant advances in genetic technology, variant detection is still not as successful as it might be, even for cases and conditions that are clearly Mendelian. One way to increase the detection rate is by learning from successful discoveries. However, a successful story may include lengthy troubleshooting and failed attempts that are rarely described in scientific papers. Often, information provided in most genetic publications is only the tip of the iceberg, lacking behind-the… 
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