Article
A syngeneic variance library for functional annotation of human variation: application to BRCA2.
Cancer research - 1 Jul 2008
Hucl Tomas, Rago Carlo, Gallmeier Eike, Brody Jonathan R, Gorospe Myriam, Kern Scott E
Abstract excerpt
The enormous scope of natural human genetic variation is now becoming defined. To accurately annotate these variants, and to identify those with clinical importance, is often difficult to assess through functional assays. We explored systematic annotation by using homologous recombination to modify a native gene in hemizygous (wt/Deltaexon) human cancer cells, generating a novel syngeneic variance library...
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