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Updated: Aug 16, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Planning of samples for linkage analysis. Incomplete penetrance]
Abstract:
Dependence of the minimal size of a pedigree sample providing the given quality of a linkage decision on the genotype penetrance of the localized gene is considered. The two ways of the sample informativity increase are discussed and their effects are estimated. These ways are: the adequate choice of a marker gene and certain complication of a pedigree structure. It is shown for the latter that the effect can be achieved only for certain phenotypic characteristics of the additional pedigree members.
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