Background: To understand individual genomes it is necessary to look at the
variations that lead to changes in phenotype and possibly to disease. However,
genotype information alone is often not sufficient and additional knowledge
regarding the phase of the variation is needed to make correct interpretations.
Interactive visualizations, that allow the user to explore the data in various
ways, can be of great assistance in the process of making well informed
decisions. But, currently there is a lack for visualizations that are able to
deal with phased haplotype data. Results: We present inPHAP, an interactive
visualization tool for genotype and phased haplotype data. inPHAP features a
variety of interaction possibilities such as zooming, sorting, filtering and
aggregation of rows in order to explore patterns hidden in large genetic data
sets. As a proof of concept, we apply inPHAP to the phased haplotype data set
of Phase 1 of the 1000 Genomes Project. Thereby, inPHAP's ability to show
genetic variations on the population as well as on the individuals level is
demonstrated for several disease related loci. Conclusions: As of today, inPHAP
is the only visual analytical tool that allows the user to explore unphased and
phased haplotype data interactively. Due to its highly scalable design, inPHAP
can be applied to large datasets with up to 100 GB of data, enabling users to
visualize even large scale input data. inPHAP closes the gap between common
visualization tools for unphased genotype data and introduces several new
features, such as the visualization of phased data.Comment: BioVis 2014 conferenc
