Title |
Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias
|
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Published in |
BMC Genomics, January 2012
|
DOI | 10.1186/1471-2164-13-34 |
Pubmed ID | |
Authors |
John P Didion, Hyuna Yang, Keith Sheppard, Chen-Ping Fu, Leonard McMillan, Fernando Pardo-Manuel de Villena, Gary A Churchill |
Abstract |
High-density genotyping arrays that measure hybridization of genomic DNA fragments to allele-specific oligonucleotide probes are widely used to genotype single nucleotide polymorphisms (SNPs) in genetic studies, including human genome-wide association studies. Hybridization intensities are converted to genotype calls by clustering algorithms that assign each sample to a genotype class at each SNP. Data for SNP probes that do not conform to the expected pattern of clustering are often discarded, contributing to ascertainment bias and resulting in lost information - as much as 50% in a recent genome-wide association study in dogs. |
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Australia | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
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Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
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Australia | 1 | 1% |
Canada | 1 | 1% |
Unknown | 62 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 15 | 22% |
Student > Master | 10 | 15% |
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Professor > Associate Professor | 4 | 6% |
Other | 11 | 16% |
Unknown | 3 | 4% |
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Immunology and Microbiology | 2 | 3% |
Other | 5 | 7% |
Unknown | 7 | 10% |