Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

NATURE GENETICS(2010)

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摘要
Jun Wang and colleagues report the targeted capture and resequencing of the exomes of 200 Danish individuals at an average coverage of 12-fold. They identify an excess of low frequency non-synonymous variants that goes beyond previous predictions.
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关键词
DNA sequencing,Genetic variation,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics
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