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exome sequencing

Tuesday 4 December 2007

Definition: Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform.

See also

- exome data
- disease-causing genes identified by exome sequencing
- cancer exome sequencing

References

- Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform. Summerer D, Schracke N, Wu H, Cheng Y, Bau S, Stähler CF, Stähler PF, Beier M. Genomics. 2010 Apr;95(4):241-6. PMID: 20138981

- Exome sequencing makes medical genomics a reality. Biesecker LG. Nat Genet. 2010 Jan;42(1):13-4. PMID: 20037612

- Exome sequencing of a multigenerational human pedigree. Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. PLoS One. 2009 Dec 14;4(12):e8232. PMID: 20011588

- Exome sequencing identifies the cause of a mendelian disorder. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Nat Genet. 2010 Jan;42(1):30-5. PMID: 19915526

- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. PMID: 19861545

- Targeted capture and massively parallel sequencing of 12 human exomes. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Nature. 2009 Sep 10;461(7261):272-6. PMID: 19684571

- Exome sequencing takes centre stage in cancer profiling. Maher B. Nature. 2009 May 14;459(7244):146-7. PMID: 19444175

- New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. Horswell SD, Ringham HE, Shoulders CC. J Lipid Res. 2009 Apr;50 Suppl:S370-5. PMID: 19023136

- The Genome Sequencer FLX System—longer reads, more applications, straight forward bioinformatics and more complete data sets. Droege M, Hill B. J Biotechnol. 2008 Aug 31;136(1-2):3-10. PMID: 18616967