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This article is part of the supplement: Highlights of the 1st IEEE Symposium on Biological Data Visualization (BioVis 2011)

Open Access Research

iHAT: interactive Hierarchical Aggregation Table for Genetic Association Data

Julian Heinrich1*, Corinna Vehlow1, Florian Battke2, Günter Jäger2, Daniel Weiskopf1 and Kay Nieselt2

Author Affiliations

1 VISUS, University of Stuttgart, Allmandring 19, 70569 Stuttgart, Germany

2 Integrative Transcriptomics, ZBIT, University of Tübingen, Sand 14, 72076 Tübingen, Germany

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BMC Bioinformatics 2012, 13(Suppl 8):S2  doi:10.1186/1471-2105-13-S8-S2

Published: 18 May 2012

Abstract

In the search for single-nucleotide polymorphisms which influence the observable phenotype, genome wide association studies have become an important technique for the identification of associations between genotype and phenotype of a diverse set of sequence-based data. We present a methodology for the visual assessment of single-nucleotide polymorphisms using interactive hierarchical aggregation techniques combined with methods known from traditional sequence browsers and cluster heatmaps. Our tool, the interactive Hierarchical Aggregation Table (iHAT), facilitates the visualization of multiple sequence alignments, associated metadata, and hierarchical clusterings. Different color maps and aggregation strategies as well as filtering options support the user in finding correlations between sequences and metadata. Similar to other visualizations such as parallel coordinates or heatmaps, iHAT relies on the human pattern-recognition ability for spotting patterns that might indicate correlation or anticorrelation. We demonstrate iHAT using artificial and real-world datasets for DNA and protein association studies as well as expression Quantitative Trait Locus data.