Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method

Article Abstract:

A computationally feasible approach that does not assume Hardy-Weinberg equilibrium, along with graphic displays and a statistical comparison of pair wise matrices of linkage disequilibrium (LD) between case and control samples is presented. The LD-contrast tests demonstrate substantially higher power under certain haplotype-driven disease models.

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Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

Article Abstract:

An analysis of copy-number polymorphisms (CNPs) within the sample populations used by the International HapMap Project is presented and the somatic variation among diverse tissue sources is assessed. The results have underscored the requirement for complete maps of genetic variation in duplication-rich regions of the genome.

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A comprehensive analysis of common copy-number variations in the human genome

Article Abstract:

A whole-genome array comparative genomic hybridization assay is used to identify and analyze segmental copy-number variations (CNVs) in the human genome that represent a major genetic component of the phenotypic diversity. The in-depth survey provides a valuable baseline for studies involving human genetics.

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