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Updated: May 29, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Interpreting a genetic case-control finding: What can be said, what cannot be said and implications in Indian
1Human Genetics Unit, Indian Statistical Institute, Kolkata, India.
Abstract:
Identification of genetic variants responsible for complex disorders using association mapping is an active area of research. There are two broad classes of association methodologies: population-based case-control studies and family-based transmission analyses. While case-control analyses are more popular and in general, more powerful than family-based analyses, they suffer from some inherent limitations. Thus, it is of importance, to understand the implications of an association finding obtained from a case-control study design. This article discusses the relative advantages and disadvantages of the two classes of association analyses, particularly in the context of genetic diversity in Indian populations.
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