Title |
A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples
|
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Published in |
BMC Genomics, April 2014
|
DOI | 10.1186/1471-2164-15-274 |
Pubmed ID | |
Authors |
Nikolas Pontikos, Deborah J Smyth, Helen Schuilenburg, Joanna MM Howson, Neil M Walker, Oliver S Burren, Hui Guo, Suna Onengut-Gumuscu, Wei-Min Chen, Patrick Concannon, Stephen S Rich, Jyothi Jayaraman, Wei Jiang, James A Traherne, John Trowsdale, John A Todd, Chris Wallace |
Abstract |
Killer Immunoglobulin-like Receptors (KIRs) are surface receptors of natural killer cells that bind to their corresponding Human Leukocyte Antigen (HLA) class I ligands, making them interesting candidate genes for HLA-associated autoimmune diseases, including type 1 diabetes (T1D). However, allelic and copy number variation in the KIR region effectively mask it from standard genome-wide association studies: single nucleotide polymorphism (SNP) probes targeting the region are often discarded by standard genotype callers since they exhibit variable cluster numbers. Quantitative Polymerase Chain Reaction (qPCR) assays address this issue. However, their cost is prohibitive at the sample sizes required for detecting effects typically observed in complex genetic diseases. |
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Geographical breakdown
Country | Count | As % |
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United Kingdom | 4 | 67% |
Netherlands | 1 | 17% |
Unknown | 1 | 17% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 6 | 100% |
Mendeley readers
Geographical breakdown
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United Kingdom | 1 | 4% |
Germany | 1 | 4% |
Unknown | 24 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 10 | 38% |
Student > Ph. D. Student | 5 | 19% |
Professor | 2 | 8% |
Student > Bachelor | 2 | 8% |
Professor > Associate Professor | 2 | 8% |
Other | 2 | 8% |
Unknown | 3 | 12% |
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Medicine and Dentistry | 2 | 8% |
Immunology and Microbiology | 2 | 8% |
Mathematics | 1 | 4% |
Other | 3 | 12% |
Unknown | 4 | 15% |