Article
Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.
Human mutation - 1 Feb 2015
Ghosh Soma, Bhunia Anil K, Paun Bogdan C, Gilbert Samuel F, Dhru Urmil, Patel Kalpesh, Kern Scott E
Abstract excerpt
The greatest interpretive challenge of modern medicine may be to functionally annotate the vast variation of human genomes. Demonstrating a proposed approach, we created a library of BRCA2 exon 27 shotgun-mutant plasmids including solitary and multiplex mutations to generate human knockin clones using homologous recombination. This 55-mutation, 13-clone syngeneic variance library (SyVaL) comprised severely...
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