Concepedia

The Human Variome Project

Richard G.H. Cotton, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Samuel F. Berkovic, Anthony J. Brookes, John Burn, Garry R. Cutting, Johan T. den Dunnen, Paul Flicek,

Science · 2008 · 69 citations · 5 references

DOIFull text

Open access

Abstract

An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized.

References

5

LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner · Human Mutation · 2005 · 254 citations

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The effect of Mendelian disease on human health: A measurement

Teresa Costa, Charles R. Scriver, Barton Childs et al. · American Journal of Medical Genetics · 1985 · 132 citations

Recommendations of the 2006 Human Variome Project meeting

Nature Genetics · 2007 · 61 citations · Full text

, , +5

Human Variome Project: an International Collaboration to Catalogue Human Genetic Variation

Huijun Z. Ring, Pui–Yan Kwok, Richard G.H. Cotton · Pharmacogenomics · 2006 · 59 citations

, , +10

London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM

Harold N. Bass · The American Journal of Human Genetics · 2002 · 16 citations · Full text

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