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Author Notes:

Correspondence to: Madhuri Hegde, Emory Genetics Laboratory, Decatur, GA. E-mail: mhegde@emory.edu

Subject:

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Genetics & Heredity
  • database
  • variant
  • mutation
  • inherited disease
  • data sharing
  • CLINICALLY RELEVANT VARIANTS
  • PRECISION MEDICINE
  • SOMATIC MUTATIONS
  • SEQUENCE VARIANTS
  • VARIATION SOCIETY
  • CANCER
  • RESOURCE
  • GUIDELINES
  • STANDARDS
  • INFORMATION

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

Tools:

Journal Title:

Human Mutation

Volume:

Volume 37, Number 6

Publisher:

, Pages 559-563

Type of Work:

Article | Post-print: After Peer Review

Abstract:

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 its association with human health and disease. Recent studies identified susceptibility markers to infectious diseases and also the contribution of rare variants to complex diseases in different populations. The sequencing revolution has also led to the creation of a large number of databases that act as "keepers" of data, and in many cases give an interpretation of the effect of the variant. This interpretation is based on reports in the literature, prediction models, and in some cases is accompanied by functional evidence. As we move toward the practice of genomic medicine, and consider its place in "personalized medicine," it is time to ask ourselves how we can aggregate this wealth of data into a single database for multiple users with different goals.

Copyright information:

© 2016 Wiley Periodicals, Inc. This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.

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