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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
2016
Human Mutation
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 five 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
doi:10.1002/humu.22982
pmid:26931283
pmcid:PMC4846518
fatcat:5m4n7x57ivafrhprxuwt6mkgz4