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Changing the game with whole exome sequencing
Article first published online: 12 JUL 2011
DOI: 10.1111/j.1399-0004.2011.01712.x
© 2011 John Wiley & Sons A/S
Issue
Clinical Genetics
Special Issue: Exome Sequencing
Volume 80, Issue 2, pages 101–103, August 2011
Additional Information
How to Cite
Ostrer, H. (2011), Changing the game with whole exome sequencing. Clinical Genetics, 80: 101–103. doi: 10.1111/j.1399-0004.2011.01712.x
Publication History
- Issue published online: 12 JUL 2011
- Article first published online: 12 JUL 2011
References
- 1
- 2, , Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 1970: 60: 315–319.
- 3, , et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992: 258: 818–821.
- 4, , et al. High-resolution comparative hybridization to combed DNA fibers. Hum Genet 1997: 99: 374–380.
- 5Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971: 68: 820–823.
- 6Contiguous gene syndromes: a component of recognizable syndromes (review). J Pediatr 1986: 109: 231–241.
- 7, Chromosome studies on normal and leukemic human lymphocytes. J Natl Cancer Inst 1960: 25: 85–109.
- 8, , et al. A second-generation linkage map of the human genome. Nature 1992: 359: 794–801.
- 9, , et al. Accessing genetic information with high-density DNA arrays. Science 1996: 274: 610–614.
- 10, , et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008: 452: 872–876.
- 11, , et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010: 42: 30–35.
- 12, , et al. Accurate multiplex polony sequencing of an evolved bacterial genome. Science 2005: 309: 1728–1732.
- 13, , et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005: 437: 376–380.
- 14, The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990: 85: 55–74.
- 15, , et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009: 461: 272–276.
- 16, , et al. A map of human genome variation from population-scale sequencing. Nature 2010: 467: 1061–1073.
- 17, , et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009: 106: 19096–19101.
- 18Initial impact of the sequencing of the human genome. Nature 2011: 470: 187–197.