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Updated: Jul 20, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Abstract:
Peculiarities of linkage analysis are considered for the case of disease inheritance deviation from a simple Mendelian pattern, including incomplete and different for two sexes penetrance of genotypes and possible presence of phenocopies. With regard for the peculiarities and within the frames of the likelihood ratio method, a software package was developed and tested on IBM PC-compatible computers. The package allows one to obtain the highest lod score for small pedigrees and the corresponding estimates of recombination frequency in men and women.
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