This article is part of a special issue on exome sequencing.

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Mutation discovery in mice by whole exome sequencing

Heather Fairfield1, Griffith J Gilbert1, Mary Barter1, Rebecca R Corrigan2, Michelle Curtain1, Yueming Ding3, Mark D'Ascenzo4, Daniel J Gerhardt4, Chao He5, Wenhui Huang6, Todd Richmond4, Lucy Rowe1, Frank J Probst2, David E Bergstrom1, Stephen A Murray1, Carol Bult1, Joel Richardson1, Benjamin T Kile7, Ivo Gut8, Jorg Hager8, Snaevar Sigurdsson9, Evan Mauceli9, Federica Di Palma9, Kerstin Lindblad-Toh9, Michael L Cunningham10, Timothy C Cox10, Monica J Justice2, Mona S Spector5, Scott W Lowe5, Thomas Albert4, Leah Rae Donahue1, Jeffrey Jeddeloh4, Jay Shendure10 and Laura G Reinholdt1*

Author Affiliations

1 The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA

2 Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030, USA

3 Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA

4 Roche NimbleGen, Inc. Madison, WI 53719, USA

5 National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona, Spain

6 Walter and Eliza Hall Institute, 1G Royal Parade, Parkville, Victoria 3052, Australia

7 University of Washington, Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Craniofacial Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA

8 Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA

9 Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142, USA

10 University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065, USA

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Genome Biology 2011, 12:R86  doi:10.1186/gb-2011-12-9-r86

Published: 14 September 2011

Additional files

Additional file 1:

Summary statistics for the alpha and beta exome probe pools.

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Additional file 2:

Comparison of 2 × 76-bp datasets from four independent captures of female C56BL/6J DNA and one capture of male C57BL/6J compared to alpha data from one capture of male C57BL/6J.

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Additional file 3:

Additional data on mutant exomes sequenced in this study. Genetic background, size of mapped intervals, genotype of sequenced sample and percentage of SNVs identified are provided.

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Additional file 4:

Data generated from exome sequencing of mutant and control exomes (2 × 40 bp, 2 × 76 Illumina or 2 × 100 HiSeq).

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Additional file 5:

Seventeen variants passing filter in a C57BL/6J exome. The genome coordinate and gene annotation for each variant are provided. Comparison of these variants with the high-throughput sequencing data for 17 inbred strains available from Sanger Mouse Genomes Project revealed three exonic SNVs that are likely unique to the C57BL/6J exome.

Format: XLSX Size: 10KB Download file

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