The Human Variome Project

Hum Mutat. 2016 Jun;37(6):505-7. doi: 10.1002/humu.22986. Epub 2016 Apr 20.


The practical realization of genomics has meant a growing realization that variant interpretation is a major barrier to practical use of DNA sequence data. The late Professor Dick Cotton devoted his life to innovation in molecular genetics and was a prime mover in the international response to the need to understand the "variome." His leadership resulted in the launch first of the Human Genetic Variation Society and then, in 2006, an international agreement to launch the Human Variome Project (HVP), aimed at data integration enabled by standards and infrastructure of the databases of variants being identified in families with a range of inherited disorders. The project attracted a network of affiliates across 81 countries and earned formal recognition by UNESCO, which now hosts its biennial meetings. It has also signed a Memorandum of Understanding with the World Health Organization. Future progress will depend on longer term secure funding and integration with the efforts of the genomics community where the rapid advances in sequencing technology have enabled variant capture on a previously unimaginable scale. Efforts are underway to integrate the efforts of HVP with those of the Global Alliance for Genomics and Health to provide a lasting legacy of Dick Cotton's vision.

Keywords: GA4GH; Richard Cotton; UNESCO; Variome.

Publication types

  • Biography
  • Historical Article

MeSH terms

  • Databases, Genetic
  • Genetic Variation*
  • History, 21st Century
  • Human Genome Project / history*
  • Humans
  • Internet
  • Phenylketonurias / genetics

Personal name as subject

  • Richard Cotton