- Invited speaker presentation
- Open Access
Next-generation human genetics
- Jay Shendure1
© Shendure; licensee BioMed Central Ltd. 2011
Published: 19 September 2011
Over the past five years, a new generation of technologies has reduced the cost of DNA sequencing by more than four orders of magnitude, democratizing the field by putting the sequencing capacity of a major genome center in the hands of individual investigators . To exploit this paradigm shift, we have developed new technical methods and analytical strategies for disease gene discovery based on whole exome and whole genome sequencing. Our results to date include proof of concept  and the first demonstration  that exome sequencing of a small number of individuals can be applied to solve Mendelian, single-gene, disorders such as Miller syndrome  and Kabuki syndrome . Recently, we have also demonstrated that exome or genome sequencing of parent-child trios can be used to rapidly identify candidate genes for complex disorders such as autism . We are currently extending these strategies to additional simple and complex diseases of unknown etiology.
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- Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010, 42: 790-793. 10.1038/ng.646.PubMedPubMed CentralView ArticleGoogle Scholar
- O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011, 43: 585-589. 10.1038/ng.835.PubMedPubMed CentralView ArticleGoogle Scholar
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