Title |
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects
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Published in |
Genome Medicine, July 2013
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DOI | 10.1186/gm473 |
Pubmed ID | |
Authors |
Verena Heinrich, Tom Kamphans, Jens Stange, Dmitri Parkhomchuk, Jochen Hecht, Thorsten Dickhaus, Peter N Robinson, Peter M Krawitz |
Abstract |
With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset of an ethnically matched population. The exome-wide genotyping accuracy is estimated from the distance to this reference set, and does not require any further knowledge about data generation or the bioinformatics involved. The distances of our metric are visualized by non-metric multidimensional scaling and serve as an intuitive, standardizable score for the quality assessment of exome data. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 43% |
Spain | 1 | 14% |
United Kingdom | 1 | 14% |
Germany | 1 | 14% |
Unknown | 1 | 14% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 5 | 71% |
Members of the public | 2 | 29% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
India | 1 | 2% |
Germany | 1 | 2% |
Argentina | 1 | 2% |
Brazil | 1 | 2% |
Unknown | 37 | 90% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 29% |
Student > Ph. D. Student | 8 | 20% |
Professor | 5 | 12% |
Other | 4 | 10% |
Professor > Associate Professor | 3 | 7% |
Other | 8 | 20% |
Unknown | 1 | 2% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 14 | 34% |
Biochemistry, Genetics and Molecular Biology | 9 | 22% |
Medicine and Dentistry | 8 | 20% |
Computer Science | 3 | 7% |
Neuroscience | 2 | 5% |
Other | 3 | 7% |
Unknown | 2 | 5% |