Title |
Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data
|
---|---|
Published in |
BMC Genomics, December 2012
|
DOI | 10.1186/1471-2164-13-s8-s8 |
Pubmed ID | |
Authors |
Qi Liu, Yan Guo, Jiang Li, Jirong Long, Bing Zhang, Yu Shyr |
Abstract |
Accurate calling of SNPs and genotypes from next-generation sequencing data is an essential prerequisite for most human genetics studies. A number of computational steps are required or recommended when translating the raw sequencing data into the final calls. However, whether each step does contribute to the performance of variant calling and how it affects the accuracy still remain unclear, making it difficult to select and arrange appropriate steps to derive high quality variants from different sequencing data. In this study, we made a systematic assessment of the relative contribution of each step to the accuracy of variant calling from Illumina DNA sequencing data. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 7 | 47% |
Netherlands | 1 | 7% |
Norway | 1 | 7% |
Belgium | 1 | 7% |
Italy | 1 | 7% |
United Kingdom | 1 | 7% |
Venezuela, Bolivarian Republic of | 1 | 7% |
Unknown | 2 | 13% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 8 | 53% |
Members of the public | 7 | 47% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 15 | 4% |
France | 3 | <1% |
Italy | 2 | <1% |
Sweden | 2 | <1% |
Brazil | 2 | <1% |
Netherlands | 2 | <1% |
New Zealand | 2 | <1% |
United Kingdom | 2 | <1% |
Norway | 1 | <1% |
Other | 7 | 2% |
Unknown | 321 | 89% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 102 | 28% |
Student > Ph. D. Student | 85 | 24% |
Student > Master | 53 | 15% |
Student > Doctoral Student | 18 | 5% |
Student > Bachelor | 18 | 5% |
Other | 53 | 15% |
Unknown | 30 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 203 | 57% |
Biochemistry, Genetics and Molecular Biology | 73 | 20% |
Computer Science | 19 | 5% |
Medicine and Dentistry | 6 | 2% |
Environmental Science | 5 | 1% |
Other | 16 | 4% |
Unknown | 37 | 10% |