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Oxford University Press (OUP), Bioinformatics, 1(27), p. 144-146

DOI: 10.1093/bioinformatics/btq611

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ASSIMILATOR: a new tool to inform selection of associated genetic variants for functional studies

Journal article published in 2010 by Paul Martin ORCID, Anne Barton ORCID, Stephen Eyre, Paul Martin; Anne Barton; Stephen Eyre, S. Eyre
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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