A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis

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2008Author
Gayán, Javier
González-Pérez, Antonio
Bermudo, Fernando
Eugenia Sáez, María
Quintas, Antonio
Galan, José J.
Morón, Francisco J.
Ramirez Lorca, Reposo
Real, Luis M.
Ruiz González, Agustín
Suggested citation
Gayán, Javier;
González-Pérez, Antonio;
Bermudo, Fernando;
Eugenia Sáez, María;
Royo Sánchez-Palencia, José Luis;
Quintas, Antonio;
...
Ruiz González, Agustín.
(2008)
.
A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.
BioMed Central Genomics, 2008, vol. 9, núm. 360, p. 1-14.
https://doi.org/10.1186/1471-2164-9-360.
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Background: The difficulty in elucidating the genetic basis of complex diseases roots in the many
factors that can affect the development of a disease. Some of these genetic effects may interact in
complex ways, proving undetectable by current single-locus methodology.
Results: We have developed an analysis tool called Hypothesis Free Clinical Cloning (HFCC) to
search for genome-wide epistasis in a case-control design. HFCC combines a relatively fast
computing algorithm for genome-wide epistasis detection, with the flexibility to test a variety of
different epistatic models in multi-locus combinations. HFCC has good power to detect multi-locus
interactions simulated under a variety of genetic models and noise conditions. Most importantly,
HFCC can accomplish exhaustive genome-wide epistasis search with large datasets as
demonstrated with a 400,000 SNP set typed on a cohort of Parkinson's disease patients and
controls.
Conclusion: With the current availability of genetic studies with large numbers of individuals and
genetic markers, HFCC can have a great impact in the identification of epistatic effects that escape
the standard single-locus association analyses.
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BioMed Central Genomics, 2008, vol. 9, núm. 360, p. 1-14European research projects
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