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Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

Bull, Katherine R; Rimmer, Andrew J; Siggs, Owen M; Miosge, Lisa A; Roots, Carla M; Enders, Anselm; Bertram, Edward M; Crockford, Tanya L; Whittle, Belinda; Potter, Paul K; Simon, Michelle M; Mallon, Ann-Marie; Brown, Steve D M; Beutler, Bruce; Goodnow, Christopher C; Lunter, Gerton; Cornall, Richard J


Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies depend on conventional mapping, so the propagation of affected mice requires non-lethal screens; accurate tracking of phenotypes through pedigrees is complex and uncertain; out-crossing can introduce unexpected modifiers; and Sanger sequencing of...[Show more]

CollectionsANU Research Publications
Date published: 2013-01-31
Type: Journal article
Source: PLoS Genetics 9.1 (2013): e1003219
DOI: 10.1371/journal.pgen.1003219


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