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Chunk #4 — RARE HIGH-RISK CODING VARIANTS

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Genomewide association studies and human disease.
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yes

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(HDL) cholesterol and found that rare variants were more common in case subjects who had low levels of HDL cholesterol than in control subjects. This example, in which a limited number of candidate genes were sequenced in a large number of subjects (an approach called deep resequencing), shows the power of testing a specific hypothesis. One can imagine testing a hypothesis with the use of genomewide data, in which case the usual criterion of having sufficient power to overcome the limitation of multiple testing and the low prevalence of rare variants would apply.