An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
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Nelson, Matthew R, et al. An Abundance of Rare Functional Variants In 202 Drug Target Genes Sequenced In 14,002 People. 2012. https://doi.org/10.17615/dfec-qf54APA
Nelson, M., Wegmann, D., Ehm, M., Kessner, D., St. Jean, P., Verzilli, C., Shen, J., Tang, Z., Bacanu, S., Fraser, D., Warren, L., Aponte, J., Zawistowski, M., Liu, X., Zhang, H., Zhang, Y., Li , J., Li, Y., Li, L., Woollard, P., Topp, S., Hall, M., Nangle, K., Wang, J., Abecasis, G., Cardon, L., Zöllner, S., Whittaker, J., Chissoe, S., Novembre, J., & Mooser, V. (2012). An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. https://doi.org/10.17615/dfec-qf54Chicago
Nelson, Matthew R., Daniel Wegmann, Margaret G Ehm, Darren Kessner, Pamela St. Jean, Claudio Verzilli, Judong Shen et al. 2012. An Abundance of Rare Functional Variants In 202 Drug Target Genes Sequenced In 14,002 People. https://doi.org/10.17615/dfec-qf54- Creator
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Nelson, Matthew R.
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Wegmann, Daniel
- Other Affiliation: Department of Ecology and Evolutionary Biology, University of California–Los Angeles
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Ehm, Margaret G.
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Kessner, Darren
- Other Affiliation: Department of Ecology and Evolutionary Biology, University of California–Los Angeles
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St. Jean, Pamela
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Verzilli, Claudio
- Other Affiliation: Department of Quantitative Sciences, GSK
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Shen, Judong
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Tang, Zhengzheng
- Affiliation: School of Medicine, Department of Genetics
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Bacanu, Silviu-Alin
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Fraser, Dana
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Warren, Liling
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Aponte, Jennifer
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Zawistowski, Matthew
- Other Affiliation: Department of Biostatistics, University of Michigan–Ann Arbor
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Liu, Xiao
- Other Affiliation: BGI
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Zhang, Hao
- Other Affiliation: BGI
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Zhang, Yong
- Other Affiliation: BGI
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Li , Jun
- Other Affiliation: Department of Human Genetics, University of Michigan–Ann Arbor
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Li, Yun
- Affiliation: School of Medicine, Department of Genetics
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Li, Li
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Woollard, Peter
- Other Affiliation: Department of Quantitative Sciences, GSK
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Topp, Simon
- Other Affiliation: Department of Quantitative Sciences, GSK
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Hall, Matthew D.
- Other Affiliation: Department of Quantitative Sciences, GSK
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Nangle, Keith
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Wang, Jun
- Other Affiliation: BGI
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Abecasis, Gonçalo
- Other Affiliation: Department of Biostatistics, University of Michigan–Ann Arbor
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Cardon, Lon R.
- Other Affiliation: Department of Quantitative Sciences, GSK
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Zöllner, Sebastian
- Other Affiliation: Department of Biostatistics, University of Michigan–Ann Arbor
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Whittaker, John C.
- Other Affiliation: Department of Quantitative Sciences, GSK
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Chissoe, Stephanie L.
- Other Affiliation: Department of Quantitative Sciences, GlaxoSmithKline (GSK)
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Novembre, John
- Other Affiliation: Department of Ecology and Evolutionary Biology, University of California–Los Angeles
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Mooser, Vincent
- Other Affiliation: Department of Quantitative Sciences, GSK
- Abstract
- Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this spectrum of variation by sequencing 202 genes encoding drug targets in 14,002 individuals. We find rare variants are abundant (1 every 17 bases) and geographically localized, so that even with large sample sizes, rare variant catalogs will be largely incomplete. We used the observed patterns of variation to estimate population growth parameters, the proportion of variants in a given frequency class that are putatively deleterious, and mutation rates for each gene. We conclude that because of rapid population growth and weak purifying selection, human populations harbor an abundance of rare variants, many of which are deleterious and have relevance to understanding disease risk.
- Date of publication
- 2012
- DOI
- Identifier
- https://doi.org/10.1126/science.1217876
- 2-s2.0-84863541347
- Related resource URL
- Resource type
- Article
- Rights statement
- In Copyright
- Journal title
- Science
- Journal volume
- 337
- Journal issue
- 6090
- Page start
- 100
- Page end
- 104
- Language
- English
- Version
- Postprint
- ISSN
- 0036-8075
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- Parents:
This work has no parents.
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