Title |
Variant calling in low-coverage whole genome sequencing of a Native American population sample
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Published in |
BMC Genomics, January 2014
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DOI | 10.1186/1471-2164-15-85 |
Pubmed ID | |
Authors |
Chris Bizon, Michael Spiegel, Scott A Chasse, Ian R Gizer, Yun Li, Ewa P Malc, Piotr A Mieczkowski, Josh K Sailsbery, Xiaoshu Wang, Cindy L Ehlers, Kirk C Wilhelmsen |
Abstract |
The reduction in the cost of sequencing a human genome has led to the use of genotype sampling strategies in order to impute and infer the presence of sequence variants that can then be tested for associations with traits of interest. Low-coverage Whole Genome Sequencing (WGS) is a sampling strategy that overcomes some of the deficiencies seen in fixed content SNP array studies. Linkage-disequilibrium (LD) aware variant callers, such as the program Thunder, may provide a calling rate and accuracy that makes a low-coverage sequencing strategy viable. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Germany | 1 | 20% |
Sweden | 1 | 20% |
India | 1 | 20% |
United States | 1 | 20% |
Unknown | 1 | 20% |
Demographic breakdown
Type | Count | As % |
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Scientists | 3 | 60% |
Members of the public | 2 | 40% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | 5% |
United Kingdom | 1 | 1% |
Netherlands | 1 | 1% |
Sweden | 1 | 1% |
Unknown | 83 | 91% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 28 | 31% |
Student > Ph. D. Student | 22 | 24% |
Student > Master | 13 | 14% |
Student > Bachelor | 7 | 8% |
Student > Doctoral Student | 5 | 5% |
Other | 6 | 7% |
Unknown | 10 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 34 | 37% |
Biochemistry, Genetics and Molecular Biology | 15 | 16% |
Computer Science | 5 | 5% |
Medicine and Dentistry | 5 | 5% |
Mathematics | 3 | 3% |
Other | 14 | 15% |
Unknown | 15 | 16% |