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Updated: Aug 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Case-control analyses: Geneopardy!
Eric Jorgenson1, Xin Liu, John S Witte
1Department of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, California 94143, USA.
Abstract:
The case-control analyses group focused on a diverse set of questions, including study design, power, and analysis of case-control studies. Papers on study design examined various case-selection strategies, as well as ways to combine information from family- and population-based case-control data. The power of various approaches to case-control analyses was compared in several papers, while two papers chose to apply specific methods to analyzing the data. Two groups examined haplotype-related issues, including resolving un-phased haplotypes and comparing haplotype- and single-nucleotide polymorphism-based methods for analyzing data. Finally, one group examined the optimal number of markers for the genomic control approach to population stratification.
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