An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

Author:

Nelson Matthew R.1,Wegmann Daniel2,Ehm Margaret G.1,Kessner Darren2,St. Jean Pamela1,Verzilli Claudio3,Shen Judong1,Tang Zhengzheng4,Bacanu Silviu-Alin1,Fraser Dana1,Warren Liling1,Aponte Jennifer1,Zawistowski Matthew5,Liu Xiao6,Zhang Hao6,Zhang Yong6,Li Jun7,Li Yun4,Li Li1,Woollard Peter3,Topp Simon3,Hall Matthew D.3,Nangle Keith1,Wang Jun68,Abecasis Gonçalo5,Cardon Lon R.9,Zöllner Sebastian510,Whittaker John C.3,Chissoe Stephanie L.1,Novembre John2,Mooser Vincent9

Affiliation:

1. Department of Quantitative Sciences, GlaxoSmithKline (GSK), Research Triangle Park, NC 27709, USA.

2. Department of Ecology and Evolutionary Biology, University of California–Los Angeles, Los Angeles, CA 90095, USA.

3. Department of Quantitative Sciences, GSK, Stevenage SG1 2NY, UK.

4. Department of Genetics and Biostatistics, University of North Carolina–Chapel Hill, Chapel Hill, NC 27599, USA.

5. Department of Biostatistics, University of Michigan–Ann Arbor, Ann Arbor, MI 48109, USA.

6. BGI, Shenzhen 518083, China.

7. Department of Human Genetics, University of Michigan–Ann Arbor, Ann Arbor, MI 48109, USA.

8. Department of Biology, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen 3393 9524, Denmark.

9. Department of Quantitative Sciences, GSK, Upper Merion, PA 19406, USA.

10. Department of Psychiatry, University of Michigan–Ann Arbor, Ann Arbor, MI 48109, USA.

Abstract

A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casals and Bertranpetit ). Tennessen et al. (p. 64 , published online 17 May), looking at all of the protein-coding genes in the human genome, and Nelson et al. (p. 100 , published online 17 May), looking at genes that encode drug targets, address this question through deep sequencing efforts on samples from multiple individuals. The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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