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Coverage and power in genomewide association studies.

American journal of human genetics | 2006

The ability of genomewide association studies to decipher genetic traits is driven in part by how well the measured single-nucleotide polymorphisms "cover" the unmeasured causal variants. Estimates of coverage based on standard linkage-disequilibrium measures, such as the average maximum squared correlation coefficient (r2), can lead to inaccurate and inflated estimates of the power of genomewide association studies. In contrast, use of the "cumulative r2 adjusted power" measure presented here gives more-accurate estimates of power for genomewide association studies.

Pubmed ID: 16642443 RIS Download

Research resources used in this publication

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Associated grants

  • Agency: NCI NIH HHS, United States
    Id: R01 CA094211
  • Agency: NIGMS NIH HHS, United States
    Id: U01 GM061390
  • Agency: NIGMS NIH HHS, United States
    Id: GM061390
  • Agency: NCI NIH HHS, United States
    Id: CA88164
  • Agency: NCI NIH HHS, United States
    Id: CA94211
  • Agency: NIGMS NIH HHS, United States
    Id: U19 GM061390
  • Agency: NCI NIH HHS, United States
    Id: R01 CA088164

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QUANTO (tool)

RRID:SCR_009084

Software program that computes sample size or power for association studies of genes, environmental factors, gene-environment interaction, or gene-gene interaction. Available study designs for a disease (binary) outcome include the unmatched case-control, matched case-control, case-sibling, case-parent, and case-only designs. Study designs for a quantitative tra it include independent individuals and case parent designs. Quanto is a 32-bit Windows application requiring Windows 95, 98, NT, 2000, ME or XP to run. The graphical user interface allows th e user to easily change the model and view the results without having to edit an input file and rerun the program for every model. The results of a session are stored to a log file. This log can be printed or saved to a file for reviewing at a later date. An option is included to create a text file of the log that can be imported into other documents. (entry from Genetic Analysis Software)

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