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Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

Authors :
Kohonen-Corish, Maija R. J.
Macrae, Finlay
Genuardi, Maurizio
Aretz, Stefan
Bapat, Bharati
Bernstein, Inge T.
Burn, John
Cotton, Richard G. H.
den Dunnen, Johan T.
Frebourg, Thierry
Greenblatt, Marc S.
Hofstra, Robert
Holinski-Feder, Elke
Lappalainen, Ilkka
Lindblom, Annika
Maglott, Donna
Møller, Pål
Morreau, Hans
Möslein, Gabriela
Sijmons, Rolf
Source :
Human Mutation; Apr2011, Vol. 32 Issue 4, p491-494, 4p
Publication Year :
2011

Abstract

The article discusses the highlights of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT)-Human Variome Project (HVP) Workshop held in Paris, France on May 10, 2010. The topics tackled included the development of an algorithm for interpreting MMR gene variants, the use of splicing and other functional assays to assign pathogenicity to unclassified variants and virtual pathology databasing of hereditary diseases. Sean Tavtigian and Robert Hofstra were among the speakers.

Details

Language :
English
ISSN :
10597794
Volume :
32
Issue :
4
Database :
Complementary Index
Journal :
Human Mutation
Publication Type :
Academic Journal
Accession number :
59319966
Full Text :
https://doi.org/10.1002/humu.21450