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- DOI: 10.1093/bioinformatics/btq611
- PMID: 21177990
- UKPMCID: 21177990
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ASSIMILATOR: a new tool to inform selection of associated genetic variants for functional studies.
Martin, Paul; Barton, Anne; Eyre, Stephen
Bioinformatics (Oxford, England). 2011;27(1):144-6.
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Full-text held externally
- DOI: 10.1093/bioinformatics/btq611
- PMID: 21177990
- UKPMCID: 21177990
Abstract
MOTIVATION: Fine-mapping experiments from genome-wide association studies (GWAS) are underway for many complex diseases. These are likely to identify a number of putative causal variants, which cannot be separated further in terms of strength of genetic association due to linkage disequilibrium. The challenge will be selecting which variant to prioritize for subsequent expensive functional studies. A wealth of functional information generated from wet lab experiments now exists but cannot be easily interrogated by the user. Here, we describe a program designed to quickly assimilate this data called ASSIMILATOR and validate the method by interrogating two regions to show its effectiveness. AVAILABILITY: http://www.medicine.manchester.ac.uk/musculoskeletal/research/arc/genetics/bioinformatics/assimilator/. CONTACT: paul.martin-2@manchester.ac.uk.