ICML 2019 Expo Talk

July 12, 2020

Expo 2019 Schedule »

Visualizing personal genomics with genewall-tensor

Sponsor: doc.ai

Organizers:
Wim Van Criekinge (doc.ai)

Presenters:
Wim Van Criekinge (doc.ai)

Abstract:

The primary purpose of exploring personal genomics is to gain knowledge and understanding from the wealth of information encoded in an individual’s genome. Visualization is a critical aspect for exploration and interpreting of this personal genomic information. However, due to the quantity and richness of the data – a complete human genome contains around 2x3.2 billion letters or nucleotides – specialized tools and techniques are needed. We introduce Genewall-tensor, a genome browser provided as a mobile device application specifically designed for physicians to easily interpret, deliver and communicate patient’s genomic information and its significance through effective visualization. Genewall-tensor provides browsable access to patient’s raw genomic data in parallel with the genomic sequence allowing straightforward visualization of disease-associated variant locations. Importantly, one main aspect of our browser is the ability to integrate multiple forms of genomic information in the same field of view: next to a person’s genome sequence, different data types providing additional information (i.e. transcription factor binding, proteins, etc.) can be rendered in parallel tracks to visually assess possible functional implications of a specific genomic variant. Note that this information is not limited to one patient (sequence), but that it is possible to upload multiple genomic profiles. This property facilitates comparative visual assessment between for example personal genomes of family members, patient’s with similar symptoms/diseases, or even between the somatic DNA sequence of a cancer patient compared and the DNA sequence his tumor genome.