Introduction

The Human Variome Project Consortium encourages the sharing of genetics and genomics data. The Project believes that if local knowledge is open and easily accessible to the global community, global knowledge capacity and global health can be significantly improved [1].

Continual advances in genetic and genomic research have increased the understanding and identification of underlying genetic variants for common and rare disorders [2].

Gene/disease specific databases (G/DSDBs) are at the forefront of sharing this research and understanding among the global community, and provide a means for collecting, curating and sharing expert-derived consensus interpretations of variant pathogenicity and effects on human health.

Purpose

The Gene/Disease Specific Databases section of the HVP Solution Blueprint is intended to be a practical guide and provide advice on establishing a gene/disease specific database.

Exclusions

This document provides general recommendations drawn from the literature and the combined expertise of the representatives on the Human Variome Project Gene/Disease Specific Database Advisory Council. It is not intended to be a complete guide or standard, however portions of this section will be based on published HVP Standards and Guidelines. Each of these parts will be clearly marked.

Structure

The information is organised around the following topics:

  1. What is a gene/disease specific database?
  2. Initial steps before setting up a gene/disease specific database
  3. Information to be included in a gene/disease specific database
  4. Database management systems
  5. Data security
  6. Gene/disease specific database curation
  7. Ethical, legal and social issues

Bibliography

  1. 1.Human Variome Project. Project Roadmap 2012-2016. 2012.
  2. 2.Mitropoulou, C., Webb, A.J., Mitropoulos, K., Brookes, A.J., and Patrinos, G.P. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Human Mutation 31, 10 (2010), 1109–1116.