Title |
The genomic signature of trait-associated variants
|
---|---|
Published in |
BMC Genomics, February 2013
|
DOI | 10.1186/1471-2164-14-108 |
Pubmed ID | |
Authors |
Alida S D Kindt, Pau Navarro, Colin A M Semple, Chris S Haley |
Abstract |
Genome-wide association studies have identified thousands of SNP variants associated with hundreds of phenotypes. For most associations the causal variants and the molecular mechanisms underlying pathogenesis remain unknown. Exploration of the underlying functional annotations of trait-associated loci has thrown some light on their potential roles in pathogenesis. However, there are some shortcomings of the methods used to date, which may undermine efforts to prioritize variants for further analyses. Here, we introduce and apply novel methods to rigorously identify annotation classes showing enrichment or depletion of trait-associated variants taking into account the underlying associations due to co-location of different functional annotations and linkage disequilibrium. |
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Germany | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
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Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
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New Zealand | 1 | 1% |
United States | 1 | 1% |
Canada | 1 | 1% |
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Student > Ph. D. Student | 26 | 34% |
Researcher | 23 | 30% |
Student > Master | 5 | 6% |
Professor > Associate Professor | 4 | 5% |
Student > Bachelor | 3 | 4% |
Other | 9 | 12% |
Unknown | 7 | 9% |
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Medicine and Dentistry | 4 | 5% |
Psychology | 1 | 1% |
Other | 1 | 1% |
Unknown | 7 | 9% |