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Bayesian Models for Detecting Epistatic Interactions from Genetic Data

Journal

ANNALS OF HUMAN GENETICS
Volume 75, Issue -, Pages 183-193

Publisher

WILEY
DOI: 10.1111/j.1469-1809.2010.00621.x

Keywords

Bayesian Methods; association mapping; epistasis; QTL

Funding

  1. NIH [R01 HG004718-03, R01-HG02518]
  2. NCI [1U54CA149237]
  3. Washington Life Science Discovery Fund [3104672]
  4. NSF [DMS-0706989]
  5. NATIONAL CANCER INSTITUTE [U54CA149237] Funding Source: NIH RePORTER
  6. NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG004718, R01HG002518] Funding Source: NIH RePORTER

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P>Current disease association studies are routinely conducted on a genome-wide scale, testing hundreds of thousands or millions of genetic markers. Besides detecting marginal associations of individual markers with the disease, it is also of interest to identify gene-gene and gene-environment interactions, which confer susceptibility to the disease risk. The astronomical number of possible combinations of markers and environmental factors, however, makes interaction mapping a daunting task both computationally and statistically. In this paper, we review and discuss a set of Bayesian partition methods developed recently for mapping single-nucleotide polymorphisms in case-control studies, their extension to quantitative traits, and further generalization to multiple traits. We use simulation and real data sets to demonstrate the performance of these methods, and we compare them with some existing interaction mapping algorithms. With the recent advance in high-throughput sequencing technologies, genome-wide measurements of epigenetic factor enrichment, structural variations, and transcription activities become available at the individual level. The tsunami of data creates more challenges for gene-gene interaction mapping, but at the same time provides new opportunities that, if utilized properly through sophisticated statistical means, can improve the power of mapping interactions at the genome scale.

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