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Activity Number:
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427
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Type:
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Contributed
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Date/Time:
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Wednesday, August 9, 2006 : 10:30 AM to 12:20 PM
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Sponsor:
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Biometrics Section
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| Abstract - #307004 |
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Title:
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Measuring Deviations from Hardy Weinberg Equilibrium in SNP Data
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Author(s):
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Vernon S. Pankratz*+ and Robert Vierkant
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Companies:
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Mayo Clinic College of Medicine and Mayo Clinic College of Medicine
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Address:
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200 1st Street , Rochester, MN, 55905,
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Keywords:
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genetics ; genotyping quality assessments ; approximate inference
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Abstract:
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Hardy Weinberg Equilibrium (HWE) is rapidly achieved in a randomly mating population. Testing for deviation from HWE expectations can provide an assessment of the quality of genotyping results, and it can also provide information about other population genetic parameters. This check is often limited to a chi-square test comparing observed to expected genotype counts, although other possibilities exist. We present a measure of departure from HWE, and an approximation to its standard error. We also present results from simulations that assess the performance of the proposed measure in comparison to existing tests and measures. Partial results suggest that the approximations are close to empirical estimates. However, for small sample sizes the estimates can significantly underestimate the empirically derived values. We also assess small sample corrections to the proposed estimates.
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