Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

@article{Bean2016GeneVD,
  title={Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.},
  author={Lora J. H. Bean and Madhuri R. Hegde},
  journal={Human mutation},
  year={2016},
  volume={37 6},
  pages={559-63}
}
Revolutionary changes in sequencing technology and the desire to develop therapeutics for rare diseases have led to the generation of an enormous amount of genomic data in the last 5 years. Large-scale sequencing done in both research and diagnostic laboratories has linked many new genes to rare diseases, but has also generated a number of variants that we cannot interpret today. It is clear that we remain a long way from a complete understanding of the genomic variation in the human genome and… CONTINUE READING