Title |
The functional spectrum of low-frequency coding variation
|
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Published in |
Genome Biology, September 2011
|
DOI | 10.1186/gb-2011-12-9-r84 |
Pubmed ID | |
Authors |
Gabor T Marth, Fuli Yu, Amit R Indap, Kiran Garimella, Simon Gravel, Wen Fung Leong, Chris Tyler-Smith, Matthew Bainbridge, Tom Blackwell, Xiangqun Zheng-Bradley, Yuan Chen, Danny Challis, Laura Clarke, Edward V Ball, Kristian Cibulskis, David N Cooper, Bob Fulton, Chris Hartl, Dan Koboldt, Donna Muzny, Richard Smith, Carrie Sougnez, Chip Stewart, Alistair Ward, Jin Yu, Yali Xue, David Altshuler, Carlos D Bustamante, Andrew G Clark, Mark Daly, Mark DePristo, Paul Flicek, Stacey Gabriel, Elaine Mardis, Aarno Palotie, Richard Gibbs, the 1000 Genomes Project |
Abstract |
Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants altering amino acid sequence and protein function are enriched at low variant allele frequency, 2 to 5%, but because of insufficient sample size it is not clear if the same trend holds for rare variants below 1% allele frequency. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 16 | 5% |
United Kingdom | 5 | 2% |
Germany | 3 | <1% |
Spain | 3 | <1% |
Korea, Republic of | 2 | <1% |
Italy | 2 | <1% |
Brazil | 2 | <1% |
Canada | 2 | <1% |
Australia | 1 | <1% |
Other | 9 | 3% |
Unknown | 276 | 86% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 104 | 32% |
Student > Ph. D. Student | 71 | 22% |
Other | 22 | 7% |
Professor | 21 | 7% |
Student > Bachelor | 20 | 6% |
Other | 60 | 19% |
Unknown | 23 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 179 | 56% |
Biochemistry, Genetics and Molecular Biology | 43 | 13% |
Medicine and Dentistry | 32 | 10% |
Computer Science | 9 | 3% |
Engineering | 5 | 2% |
Other | 23 | 7% |
Unknown | 30 | 9% |