Population-based gene discovery in the post-genomic era
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Updated: Oct 3, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Naomi B. Zak1, Sagiv Shifman, Anne Shalom
1IDgene Pharmaceuticals, PO Box 34478, 91344, Jerusalem, Israel
Abstract:
The complex genetic nature of many common diseases makes the identification of the genes that predispose to these ailments a difficult task. Consequently, many factors have to be considered in choosing the optimal approach to be taken in gene discovery of susceptibility genes. The elements to be considered include the applicability of a family-based linkage paradigm versus a population-based association design and the effects of linkage disequilibrium (LD) and genotypic relative risk (GRR). In this review we discuss these various points and describe the impact on LD and GRR of studying an isolated (also termed 'founder' or 'homogeneous') population, such as Ashkenazi Jews, as compared to an outbred population, such as Caucasians.
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