Article
On the probability that a novel variant is a disease-causing mutation.
Genome research - 1 Jul 2005
Mitchell Adele A, Chakravarti Aravinda, Cutler David J
Abstract excerpt
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing the probability that the novel SNP might actually be a neutral variant. We have developed a population genetics-based method for calculating a P-value for a mutation-detection effort. Our method can be applied to a...
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