Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

doi:10.1371/journal.pgen.1000759

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Article

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

PLoS genetics - 1 Dec 2009

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

Abstract excerpt

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 annotated exons and boundaries from over 900 genes in 41 recessive mutant mouse lines that were isolated in an...

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PMID: 20011118
DOI: 10.1371/journal.pgen.1000759
PMCID: PMC2782131

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