Article
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Human mutation - 1 Jun 2016
Bean Lora J H, Hegde Madhuri R
Abstract excerpt
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...
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