Genome-wide association studies of human diseases have uncovered large numbers of common genetic variants with low effect sizes; however, rare genetic variants with large effect sizes may have greater relevance with respect to disease heritability. The identification and characterization of rare variants such as is, therefore, likely to be a major endeavor in the field in the coming years.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708796 | PMC |
| http://dx.doi.org/10.1038/nrrheum.2010.177 | DOI Listing |
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