Journal
NATURE REVIEWS GENETICS
Volume 12, Issue 11, Pages 745-755Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrg3031
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Funding
- US National Institutes of Health (NIH)/National Heart, Lung, and Blood Institute (NHLBI) [HL-102923, 5R01HL094976]
- US Women's Health Initiative (WHI) [HL-102924]
- Heart GO Sequencing Project [HL-103010]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- NIH/National Human Genome Research Institute [5R21HG004749, 1RC2HG005608, 5RO1HG004316, T32HG00035]
- NIH/National Institute of Environmental Health Sciences [HHSN273200800010C]
- Life Sciences Discovery Fund [2065508, 0905001]
- Washington Research Foundation
- NIH/National Institute of Child Health and Human Development [1R01HD048895]
- Agency for Science, Technology and Research, Singapore
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Exome sequencing-the targeted sequencing of the subset of the human genome that is protein coding-is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Over the past 2 years, experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders. Additionally, exome sequencing is being adapted to explore the extent to which rare alleles explain the heritability of complex diseases and health-related traits. These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.
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