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Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for mutation identification. We re-sequenced the 14,000...

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Detalles Bibliográficos
Autores principales: Boles, Melissa K., Wilkinson, Bonney M., Wilming, Laurens G., Liu, Bin, Probst, Frank J., Harrow, Jennifer, Grafham, Darren, Hentges, Kathryn E., Woodward, Lanette P., Maxwell, Andrea, Mitchell, Karen, Risley, Michael D., Johnson, Randy, Hirschi, Karen, Lupski, James R., Funato, Yosuke, Miki, Hiroaki, Marin-Garcia, Pablo, Matthews, Lucy, Coffey, Alison J., Parker, Anne, Hubbard, Tim J., Rogers, Jane, Bradley, Allan, Adams, David J., Justice, Monica J.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782131/
https://www.ncbi.nlm.nih.gov/pubmed/20011118
http://dx.doi.org/10.1371/journal.pgen.1000759