Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes-Reference-Cited by-同舟云学术

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Published:2012-07-06 Issue:6090 Volume:337 Page:64-69
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Tennessen Jacob A.¹,Bigham Abigail W.²,O’Connor Timothy D.¹,Fu Wenqing¹,Kenny Eimear E.³,Gravel Simon³,McGee Sean¹,Do Ron⁴⁵,Liu Xiaoming⁶,Jun Goo⁷,Kang Hyun Min⁷,Jordan Daniel⁸,Leal Suzanne M.⁹,Gabriel Stacey⁴,Rieder Mark J.¹,Abecasis Goncalo⁷,Altshuler David⁴,Nickerson Deborah A.¹,Boerwinkle Eric⁶¹⁰,Sunyaev Shamil⁴⁸,Bustamante Carlos D.³,Bamshad Michael J.¹²,Akey Joshua M.¹, , ,

Affiliation:

1. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

2. Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

3. Department of Genetics, Stanford University, Stanford, CA 94305, USA.

4. Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

5. The Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

6. Human Genetics Center, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.

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

8. Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

9. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

10. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, 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

Reference46 articles.

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2. Accurate and comprehensive sequencing of personal genomes

3. Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

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